25 - Disorders of the Retina and the Vitreous Flashcards
(275 cards)
1
Q
(Retinopathy of Prematurity)
Définir la ROP
A
Retinopathy of prematurity (ROP) is a vasoproliferative retinal disorder unique to premature infants.
2
Q
(Retinopathy of Prematurity)
V ou F : ROP is a leading cause of childhood blindness in the United States.
A
Vrai. ROP is a leading cause of childhood blindness in the United States, second only to cerebral visual impairment.
3
Q
(Retinopathy of Prematurity)
À quel âge gestationnel début la vascularisation rétinienne?
A
Retinal vascularization begins during week 16 of gestation.
4
Q
(Retinopathy of Prematurity)
Développement de la vascularisation rétinienne (aka à quel endroit début-il et termine-t-il?)
A
Mesenchymal tissue (the source of retinal vessels) grows centrifugally from the optic disc, reaching the nasal ora serrata by 36 weeks’ gestation and the temporal ora serrata by 40 weeks’ gestation.
5
Q
(Retinopathy of Prematurity)
Quel endroit est-il vascularisé en premier : ora serrata en nasal ou en temporal?
A
Mesenchymal tissue (the source of retinal vessels) grows centrifugally from the optic disc, reaching the nasal ora serrata by 36 weeks’ gestation and the temporal ora serrata by 40 weeks’ gestation.
6
Q
(Retinopathy of Prematurity)
Que se passe-t-il a/n de la vascularisation rétinienne à 36 semaines d’AG?
A
Mesenchymal tissue (the source of retinal vessels) grows centrifugally from the optic disc, reaching the nasal ora serrata by 36 weeks’ gestation and the temporal ora serrata by 40 weeks’ gestation.
7
Q
(Retinopathy of Prematurity)
Que se passe-t-il a/n de la vascularisation rétinienne à 40 semaines d’AG?
A
Mesenchymal tissue (the source of retinal vessels) grows centrifugally from the optic disc, reaching the nasal ora serrata by 36 weeks’ gestation and the temporal ora serrata by 40 weeks’ gestation.
8
Q
(Retinopathy of Prematurity)
Facteurs qui influençent le développement de vx anormaux chez n-nés prématurés (x2)?
A
ROP results from abnormal growth of these retinal blood vessels in premature infants because of a complex interaction between vascular endothelial growth factor (VEGF) and insulin-like growth factor I (IGFI).
9
Q
(Retinopathy of Prematurity)
Combien de « phase processes » dans la physiopathologie de la ROP
A
10
Q
(Retinopathy of Prematurity)
Décrire la Phase 1 de la physopathologie de la ROP. À quel AG survient-elle?
A
11
Q
(Retinopathy of Prematurity)
Décrire la Phase 2 de la physopathologie de la ROP. À quel AG survient-elle?
A
12
Q
(Retinopathy of Prematurity)
Tx de la ROP (x2)
A
13
Q
(Retinopathy of Prematurity)
The International Classification of Retinopathy of Prematurity (ICROP) décrit la maladie selon 3 critères, quels sont-ils?
A
The International Classification of Retinopathy of Prematurity (ICROP) describes the disease by
* Location (zone)
* Stage
* Extent
14
Q
(Retinopathy of Prematurity)
Qu’est-ce qui indique une ROP sévère :
* Stage : Higher ou Lower stage numbers?
* Zone : Higher ou Lower zone numbers?
A
Higher stage numbers and lower zone numbers indicate more severe ROP.
15
Q
(Retinopathy of Prematurity)
Que signifie « Plus disease » dans la ROP?
A
- Plus disease refers to marked arteriolar tortuosity and venous engorgement of the posterior pole vasculature and is diagnosed by comparison with a standard photograph.
- It implies vascular shunting through the new vessels and signifies severe disease.
Plus disease: venous dilatation and arteriolar tortuosity present in posterior pole retinal vessels in at least 2 quadrants of the retina; standard photograph used to define the minimum amount of vascular abnormalities necessary to make the diagnosis; plus symbol (+) added to ROP stage denotes presence of plus disease (eg, stage 3 + ROP)
16
Q
(Retinopathy of Prematurity)
Vrai ou Faux : Le « Plus disease » dans la ROP est considéré comme étant une forme sévère de la maladie?
A
Vrai. It implies vascular shunting through the new vessels and signifies severe disease.
17
Q
(Retinopathy of Prematurity)
Que signifie « Pre-Plus disease » dans la ROP? (Classification ICROP)
A
Pre– plus disease refers to dilatation and tortuosity that are abnormal but less than that seen in the standard photograph.
Pre–plus disease: venous dilatation and arteriolar tortuosity in the posterior pole but not as severe as the vascular abnormalities seen in plus disease
18
Q
(Retinopathy of Prematurity)
Que signifie « Aggressive posterior ROP » dans la ROP? (Classification ICROP)
A
Aggressive posterior ROP (APROP) is a severe form of ROP defined as zone I or posterior zone II disease, associated with
* Plus disease involving all 4 quadrants of the posterior pole retinal vessels
* Shunt vessels
* Flat neovascularization at the junction between vascularized and avascular retina.
Aggressive posterior ROP: zone I or posterior zone II ROP associated with plus disease involving all 4 quadrants of the posterior pole retinal vessels, shunt vessels, and flat neovascularization at the junction between vascularized and avascular retina. Without treatment, typically progresses quickly to stage 4 or 5 ROP. Was formerly known as Rush disease.
19
Q
(Retinopathy of Prematurity)
Que se produit-il si la forme « Aggressive posterior ROP (APROP) » n’est pas traitée? (Classification ICROP)
A
Without treatment, APROP typically progresses quickly to stage 4 or 5 ROP.
20
Q
(Retinopathy of Prematurity)
Définir les différentes zones
A
21
Q
(Retinopathy of Prematurity)
Décrire le stage 1 de la ROP (Classification ICROP)
A
22
Q
(Retinopathy of Prematurity)
Décrire le stage 2 de la ROP (Classification ICROP)
A
23
Q
(Retinopathy of Prematurity)
Décrire le stage 3 de la ROP (Classification ICROP)
A
24
Q
(Retinopathy of Prematurity)
Décrire le stage 4 de la ROP (Classification ICROP)
A
25
# (Retinopathy of Prematurity)
Décrire le stage 5 de la ROP (Classification ICROP)
26
# (Retinopathy of Prematurity)
Décrire le « Extend » dans la classification ICROP de la ROP.
Extent: specified as hours of the clock as observer looks at each eye
27
# (Retinopathy of Prematurity)
2 principaux FdR de développement de la ROP
**Premature birth (30 weeks’ gestational age)** and **low birth weight (1500 g)** are the most significant risk factors for development of ROP.
28
# (Retinopathy of Prematurity)
FdR de développement de la ROP
* Premature birth (30 weeks’ gestational age)
* Low birth weight (1500 g)
* Excessive administration of supplemental oxygen
* Low levels of serum IGFI
29
# (Retinopathy of Prematurity)
V ou F : African American preterm infants are at higher risk for needing ROP treatment.
Faux. African American preterm infants are at **lower** risk for needing ROP treatment.
30
# (Retinopathy of Prematurity)
Qui devrait être screener pour une ROP (x3) ?
Current guidelines from the American Academy of Pediatrics, American Academy of Ophthalmology, and American Association for Pediatric Ophthalmology and Strabismus recommend that infants with **gestational age of 30 weeks or less, birth weight of 1500 g or less, or a complicated clinical course** be screened for ROP.
31
# (Retinopathy of Prematurity)
Âge suggéré du premier E/O pour screening de ROP?
The first examination should be performed at 4 weeks’ chronologic (postnatal) age or at a corrected gestational age of 31 weeks, whichever is later (but not later than 6 weeks’ chronologic age).
32
# (Retinopathy of Prematurity)
V ou F : In developing countries, ROP occurs in infants at an older gestational age and with a higher birth weight compared with infants in the United States.
Vrai. In developing countries, ROP occurs in infants at an older gestational age and with a higher birth weight compared with infants in the United States.
This suggests that screening criteria for ROP do not apply globally and should be modified in other regions of the world.
33
# (Retinopathy of Prematurity)
Gouttes utilisées pour dilater le n-né dans le screening de la ROP?
Combination eyedrops of relatively low concentration (**cyclopentolate 0.2% and phenylephrine 1%**) are typically used.
34
# (Retinopathy of Prematurity)
Complications systémiques possibles durant E/O du n-née pour évaluation ROP (x2)?
A nurse should be present for examinations in the neonatal intensive care unit because an infant may experience **apnea** and **bradycardia** during examination.
35
# (Retinopathy of Prematurity)
Évolution de la majorité des ROP?
Most ROP regresses spontaneously via involution
36
# (Retinopathy of Prematurity)
Intervalles de F/U suggérés pour la ROP?
37
# (Retinopathy of Prematurity)
Critères pour discontinuer ROP screening examinations?
38
# (Retinopathy of Prematurity)
% de patients avec ROP qui nécessitent un Tx?
Approximately 10% of infants examined for ROP require treatment.
39
# (Retinopathy of Prematurity)
Le Tx de la ROP est basé sur quelle étude?
Current treatment guidelines are based on results of the ETROP trial.
40
# (Retinopathy of Prematurity)
Classification : Location : Zone 1
**Zone 1 : Posterior pole**
Twice the disc-fovea distance, centered around the disc (poorest prognosis)
*With the nasal edge of the OD at one edge of the field of view with 28D lens, the limit of zone 1 is at the temporal field of view*
41
# (Retinopathy of Prematurity)
Classification : Location : Zone 2
Zone 2 : From zone 1 to the nasal ora serrata; temporally equidistant from the disc.
*ROP should not be considered zone 3 until one is sure the nasal side is vacularized to the ora serrata.*
42
# (Retinopathy of Prematurity)
Classification : Location : Zone 3
Zone 3 : The remaining temporal periphery
43
# (Retinopathy of Prematurity)
Classification : Extent
* Number of clock hours (30-degree sectors) involved.
* Of note, the number of clock hours of neovascularization was important in older treatment criteria, but it is not used in the most updated treatment guidelines.
44
# (Retinopathy of Prematurity)
Classification : Severity : Stage 1
Stage 1 : Flate demarcation line separating the vascular posterior retina from the avascular peripheral retina
45
# (Retinopathy of Prematurity)
Classification : Severity : Stage 2
Stage 2 : Ridged demarcation line
46
# (Retinopathy of Prematurity)
Classification : Severity : Stage 3
Stage 3 : Ridged demarcation line with fibrovascular proliferation or neovascularization extending from the ridge
47
# (Retinopathy of Prematurity)
Classification : Severity : Stage 4A
Stage 4A : Extrafoveal partial retinal detachment
48
# (Retinopathy of Prematurity)
Classification : Severity : Stage 4B
Stage 4B : Fovea-invilving partial retinal detachment
49
# (Retinopathy of Prematurity)
Classification : Severity : Stage 5
Stage 5 : Total retinal detachment
50
# (Retinopathy of Prematurity)
Type 1 ROP
Defines high-risk eye that meet the criteria for treatment :
* Zone 1, any stage with plus disease
* Zone 1, stage 3 without plus disease
* Zone 2, stage 2 or 3 with plus disease
51
# (Retinopathy of Prematurity)
Type 2 ROP
Defines less severely advnced eyes that should be monitored closely for progression to type 1 disease :
* Zone 1, stage 1 or 2 without plus disease
* Zone 2, stage 3 without plus disease
52
# (Retinopathy of Prematurity)
Prethreshold and Threshold Disease
Terminology historically used as part of a classification system based on the CRYO-ROP study. Originally determined treatment criteria, but no longer used as part of standard of care.
53
# (Retinopathy of Prematurity)
But du Tx dans la ROP
Therapeutic goal is ablation of avascular peripheral retina with near-confluent spots.
54
# (Retinopathy of Prematurity)
Différentes modalités de Tx pour ROP
* Laser photocoagulation is preffered over cryotherapy.
* Treatment should be instituted within 48-72h
* Use of anti-VEGF agents (ex. bevacizumab) is an emerging treatment modality, espacially when photocoagulation is nt available or in very posterior zone 1 cases. However, the long-term effects and potential risks of these medications in preterm infants are yet to be determined.
* For acute stages 4 and 5 : Surgical repair of retinal detachment by vitrectomy.
55
# (Retinopathy of Prematurity)
Qui traiter : Type 1 ou Type 2?
* Type 1 ROP needs treatment
* Type 2 ROP should be followed closely
56
# (Retinopathy of Prematurity)
Les enfants qui ont eu une ROP sont plus à risque de certaines autres pathologies oculaires, lesquelles? Et quand doit-il réévaluer un patient untreated fully vascularized fundus pour r/o ces complications?
Children who have had ROP have higher incidence of
* Myopia
* Strabismus
* Amblyopia
* Macular dragging (pseudoexotropia as a result of a large positive angle kappa)
* Cataracts
* Glaucoma (from crowding of the anterior chamber angle)
* Retinal sequelae : Lattice-like degeneration, failure of peripheral vascularization, and tortuous vessels
* Retinal detachment
An untreated fully vascularized fundus needs examination at age 6 months to r/o these complications.
57
# (Hereditary Retinal Disease)
Most common presenting sign of hereditary retinal disease in infants and young children
Nystagmus is the most common presenting sign of hereditary retinal disease in infants and young children.
58
# (Hereditary Retinal Disease)
Onset du nystagmus dans contexte d'une Hereditary Retinal Disease? Qu'indique-t-il dans ce contexte?
The onset of nystagmus typically occurs **between 8 and 12 weeks of age** and **indicates limited visual potential** if the cause is retinal disease.
59
# (Hereditary Retinal Disease)
V ou F : In infantile nystagmus caused by certain forms of Leber congenital amaurosis, achromatopsia, or congenital stationary night blindness, the retinal appearance can be normal.
Vrai. In infantile nystagmus caused by certain forms of Leber congenital amaurosis, achromatopsia, or congenital stationary night blindness, the retinal appearance can be normal.
60
# (Hereditary Retinal Disease)
Est-ce qu'un nystagmus se développe chez tous les patients avec hereditary retinal disease?
Non. Nystagmus does not develop in all patients with hereditary retinal disease; for example, **it may not develop in those with less severe retinal damage**.
61
# (Hereditary Retinal Disease)
Présentation clinique possible in older children with retinal disease?
Poor visual function or failed vision screening may be the presenting abnormality in older children with retinal disease.
62
# (Hereditary Retinal Disease)
Commentez la réponse pupillaire chez patients avec hereditary retinal dystrophies
The paradoxical pupillary response (pupils that initially constrict in the dark rather than dilate) is common in hereditary retinal dystrophies.
63
# (Hereditary Retinal Disease)
Ddx of Paradoxical Pupils
64
# (Hereditary Retinal Disease)
Tests pertinents lors évaluation d'un patient avec possible hereditary retinal disorder?
Tests utilized to evaluate a patient with a possible hereditary retinal disorder include
* Electroretinography (ERG)
* Electrooculography (EOG)
* Optical coherence tomography (OCT)
* Color vision test
* Visual field test
* Dark adaptation test
65
# (Hereditary Retinal Disease)
À partir de quel âge est-il préférable de faire un ERG pour avoir des more reliable results?
To obtain more reliable results, ERG is performed after 6–10 months of age.
66
# (Leber congenital amaurosis)
Type de transmission
Leber congenital amaurosis (LCA) is a group of hereditary (**usually autosomal recessive**) retinal dystrophies that affect both rod and cone photoreceptors.
67
# (Leber congenital amaurosis)
V ou F : Leber congenital amaurosis est une maladie hériditaire unique AR.
Faux. Leber congenital amaurosis (LCA) is a **group** of hereditary (usually autosomal recessive) retinal dystrophies that affect both rod and cone photoreceptors.
68
# (Leber congenital amaurosis)
Quels photorécepteurs sont atteints dans le Leber congenital amaurosis?
Leber congenital amaurosis (LCA) is a group of hereditary (usually autosomal recessive) retinal dystrophies that **affect both rod and cone photoreceptors**.
69
# (Leber congenital amaurosis)
Présentation clinique du Leber congenital amaurosis
LCA is characterized by
* Severe vision loss in infancy
* Nystagmus
* Poorly reactive pupils
* Extinguished ERG.
Visual acuity typically ranges from 20/200 to bare light perception, but in some patients is not very low.
Additional ocular manifestations include
* The oculodigital reflex (rubbing or poking the eye)
* Photoaversion
* Cataracts
* Keratoconus
* Keratoglobus
70
# (Leber congenital amaurosis)
Trouvailles au FO dans un Leber congenital amaurosis?
Ophthalmoscopic appearance **varies greatly, depending on the genotype**.
It ranges from a normal appearance, particularly in infancy; to pigment clumping in the retinal pigment epithelium (RPE); to resemblance of classic retinitis pigmentosa, with bone spicules, attenuation of arterioles, and disc pallor.
Other reported but less common fundus findings include extensive chorioretinal atrophy, macular coloboma, white dots (similar to those seen in retinitis punctata albescens), and marbleized retinal appearance.
71
# (Leber congenital amaurosis)
Définir l'oculodigital reflex
This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes.
72
# (Leber congenital amaurosis)
Type d'erreur réfractive associé au Leber congenital amaurosis?
High refractive errors, usually high hyperopia, are common.
73
# (Leber congenital amaurosis)
Association systémique avec Leber congenital amaurosis?
LCA-like phenotypes **can be found in a number of systemic diseases, including **
* Peroxisomal disorders (Zellweger [cerebrohepatorenal] syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease)
* The ciliopathies (Alström syndrome, Joubert syndrome, Senior-Loken syndrome, and Bardet-Biedl syndrome).
Ophthalmologists should be aware that an LCA-like phenotype may be the first sign of an undiagnosed systemic disease.
74
# (Leber congenital amaurosis)
Défénir les cilopathies?
The ciliopathies are a group of genetic disorders in which **the structure and/or function of the cilia is affected**, manifesting in **cerebral** anomalies and **renal** and **retinal** disease.
Retinal involvement is common because the junction between inner and outer segments of the photoreceptor cell is modified nonmotile cilium.
75
# (Leber congenital amaurosis)
Comment Dx un Leber congenital amaurosis?
* An **ERG** is typically used to diagnose LCA.
* However, in a child with an **obvious phenotype (oculodigital reflex, severely decreased vision at birth, and pigmentary retinopathy)**, ERG is not always necessary.
* **Genetic testing** is important and can be used to confirm the diagnosis, distinguish LCA from other retinal diseases, predict prognosis, and help with family planning.
* At least 20 different genetic mutations are known to cause LCA; the most frequent involve CEP290 (15%), GUCY2D (12%), and CRB1 (10%), as well as RPE65 (6%).
76
Tx disponible pour le Leber congenital amaurosis?
* Gene therapy is available for **biallelic RPE65 disease**.
* Studies have demonstrated improvement in subjective and objective vision after subretinal injections of the gene promoter attached to an adenovirus viral particle, but it is unclear whether these results will be sustainable.
* Results seem most promising in young children.
77
# (Achromatopsia)
Type de photoR atteints dans l'Achromatopsia?
Complete achromatopsia, also known as rod monochromatism, is an autosomal recessive congenital **disorder of the cone photoreceptors** in which patients have no color vision, poor central vision, nystagmus, and photophobia.
78
# (Achromatopsia)
Type de transmission
Complete achromatopsia, also known as rod monochromatism, is an **autosomal recessive** congenital disorder of the cone photoreceptors in which patients have no color vision, poor central vision, nystagmus, and photophobia.
79
# (Achromatopsia)
Présentation clinique de l'Achromatopsia?
Complete achromatopsia, also known as rod monochromatism, is an autosomal recessive congenital disorder of the cone photoreceptors in which patients have
* No color vision : These patients see the world in shades of gray
* Poor central vision
* Nystagmus
* Photophobia
* Hemeralopia, the inability to see clearly in bright light, occurs in these patients
80
# (Achromatopsia)
Findings on retinal examination
Findings on retinal examination are usually normal, with the possible exception of a poor or absent foveal reflex.
81
# (Achromatopsia)
V ou F : Achromatopsia is a stationary disorder
Faux.
Although achromatopsia was initially thought to be a stationary disorder, results of recent studies have shown deterioration of visual acuity, macular appearance, and cone function on ERG.
82
# (Achromatopsia)
Mutation génétique la plus souvent identifiée dans l'Achromatopsie?
Several recessive gene mutations have been identified as the cause of achromatopsia, including mutations in CNGA3, **CNGB3** (most common), GNAT2, PDE6C, and PDE6H.
83
# (Achromatopsia)
Résultats de l'ERG dans l'Achromatopsia?
The ERG is subnormal, showing extinguished cone or photopic responses but normal or nearly normal rod responses.
84
# (Achromatopsia)
Autres causes de cone dystrophies causing early-onset visual impairment and nystagmus?
Other cone dystrophies causing early-onset visual impairment and nystagmus include
* Incomplete achromatopsia, which is an autosomal recessive condition
* Blue- cone monochromatism, which is an X-linked disorder.
85
# (Achromatopsia)
Type de transmission associée au Incomplete achromatopsia
Autosomal recessive
86
# (Achromatopsia)
Type de transmission associée au Blue- cone monochromatism
X-linked disorder
87
# (Achromatopsia)
L'AV des patients avec Incomplete achromatopsia ou Blue- cone monochromatism était meilleur ou pire comparativement aux patients avec Complete achromatopsia.
In both disorders, patients usually have better vision than do those with complete achromatopsia.
88
# (Achromatopsia)
Commentez l'ERG d'un patient avec incomplete achromatopsia
In incomplete achromatopsia, some residual cone function is observed on ERG testing.
89
# (Achromatopsia)
Commentez l'ERG d'un patient avec Blue- cone monochromatism
In blue-cone monochromatism, the blue (short wavelength) cones show normal function on specialized ERG testing, but the photopic response is usually extinguished.
90
# (Achromatopsia)
Traitement de l'Achromatopsie
* Glasses with **dark lenses or red lenses** that exclude short wavelengths may help.
* Gene therapy has been used in animal models.
91
# (Congenital stationary night blindness)
Définir Congenital stationary night blindness
Congenital stationary night blindness (CSNB) refers to a group of **nonprogressive** retinal disorders characterized predominantly by **abnormal function of the rod system**.
92
# (Congenital stationary night blindness)
Type(s) de transmission associé(s) au Congenital stationary night blindness
The condition may be
* X-linked (the most common form)
* Autosomal recessive
* Autosomal dominant.
93
# (Congenital stationary night blindness)
Type de transmission la plus fréquente associé au Congenital stationary night blindness
The condition may be
* **X-linked ** (the most common form)
* Autosomal recessive
* Autosomal dominant.
94
# (Congenital stationary night blindness)
Présentation clinique du Congenital stationary night blindness
* Children with CSNB, especially the autosomal recessive and X-linked forms, usually present in early infancy with **nystagmus** and a **normal fundus appearance**.
* These forms are often also associated with **myopia** and decreased visual acuity of roughly **20/200**.
* However, the range of vision in these patients is wide, and occasionally, patients have normal vision.
* The **retina usually appears normal**, but the **optic nerve may show myopic tilt and temporal pallor**.
95
# (Congenital stationary night blindness)
Type d'erreur réfractive chez les patients avec Congenital stationary night blindness
These forms are often also associated with **myopia**.
96
# (Congenital stationary night blindness)
À quoi peut ressembler le NO chez les patients avec Congenital stationary night blindness?
The retina usually appears normal, but the optic nerve may show **myopic tilt **and **temporal pallor**.
97
# (Congenital stationary night blindness)
Commentez l'ERG d'un patient avec Congenital stationary night blindness.
* The most common ERG pattern seen in CSNB is the **“negative” dark-adapted ERG**: a **large a-wave** and a **reduced-amplitude (negative) b-wave**.
* Dark adaptation is abnormal in all patients with CSNB.
* Infants with CSNB may have a flat ERG until approximately 6 months of age, when it converts to the classic negative configuration
98
# (Congenital stationary night blindness)
Tx du Congenital stationary night blindness
Bright illumination should be used for visual tasks and refractive errors corrected.
99
# (Foveal hypoplasia)
Mutation génétique parfois associée avec le Foveal hypoplasia
Although this condition is most often associated with albinism or aniridia, it may also be isolated or familial and may be related to a defect in the **PAX6 gene**.
100
# (Foveal hypoplasia)
L'hypoplasie fovéolaire peut être associée à d'autres pathologies oculaires, lesquelles? (x2)
Although this condition is most often associated with **albinism** or **aniridia**, it may also be isolated or familial and may be related to a defect in the PAX6 gene.
101
# (Foveal hypoplasia)
Commentez le reflet fovéolaire à l'E/O?
On ophthalmoscopic examination, the **foveal reflex is poor or absent**, and the **macula exhibits hypoplasia** to varying degrees, which can also be seen in patients with complete achromatopsia.
102
# (Foveal hypoplasia)
Comment Dx une hypoplasie fovéolaire?
* **Fundus examination** showing foveal hypoplasia is diagnostic.
* OCT may be useful.
103
# (Foveal hypoplasia)
Tx de l'hypoplasie fovéolaire?
No treatment is currently available.
104
# (Aicardi syndrome)
Type de transmission
Aicardi syndrome is a presumed **X-linked autosomal dominant** disorder.
105
# (Aicardi syndrome)
Triade du syndrome d'Aicardi
Characterized by the clinical triad of
* Widespread round or oval depigmented chorioretinal lacunae
* Infantile spasms
* Agenesis of the corpus callosum.
106
# (Aicardi syndrome)
% de patients avec Chorioretinal lacunae?
Chorioretinal lacunae have been shown to occur in 88% of patients.
107
# (Aicardi syndrome)
% de patients avec optic nerve abnormalities?
Optic nerve abnormalities have been shown to occur in 81% of patients.
108
# (Aicardi syndrome)
Autres manifestations ophtalmiques associées
May also occur
*Optic nerve AN
* Colobomas
* Persistent pupillary membranes
* Microphthalmia
109
# (Aicardi syndrome)
Aicardi syndrome est léthal pour quel sexe?
Aicardi syndrome is typically lethal in males.
110
# (Aicardi syndrome)
Caractéristique particulière de l'Aicardi syndrome chez les H?
Aicardi syndrome is typically lethal in males.
111
# (Aicardi syndrome)
Dx du Aicardi syndrome
The clinical picture provides the foundation for diagnosis.
112
# (Aicardi syndrome)
Tx du Aicardi syndrome
No treatment is currently available.
113
Stargardt disease : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Macular Dystrophies
114
Best disease : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Macular Dystrophies
115
Leber congenital amaurosis : Hereditary Macular Dystrophies OU Hereditary Retinal Disease
Hereditary Retinal Disease
116
Achromatopsia : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Retinal Disease
117
Congenital stationary night blindness : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Retinal Disease
118
Aicardi syndrome : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Retinal Disease
119
Juvenile retinoschisis : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Vitreoretinopathies
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Stickler syndrome : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Vitreoretinopathies
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Knobloch syndrome : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Vitreoretinopathies
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Norrie disease : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Vitreoretinopathies
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Familial exudative vitreoretinopathy : Hereditary Macular Dystrophies OU Hereditary Retinal Disease OU Hereditary Vitreoretinopathies
Hereditary Vitreoretinopathies
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# (Hereditary Macular Dystrophies)
Most common hereditary macular dystrophy
Stargardt disease (juvenile macular degeneration) is the most common hereditary macular dystrophy.
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# (Stargardt disease)
Type de transmission génétique
Inheritance is usually autosomal recessive; in rare cases, it is autosomal dominant.
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# (Stargardt disease)
Mutation la plus fréquente dans le Stargardt disease?
Most cases are caused by mutations in the **retina-specific adenosine triphosphate– binding transporter gene (ABCA4)**.
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# (Stargardt disease)
Présentation clinique et onset du Stargardt disease
Children with Stargardt disease usually present between ages 8 and 15 years with
* Decrease in vision
* Photophobia or
* Color vision abnormalities.
The condition is **bilateral, symmetric, and progressive**.
Visual acuity levels off at approximately 20/50–20/200.
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# (Stargardt disease)
V ou F : Stargardt disease may be misdiagnosed as functional vision loss. Pourquoi?
Initially, the **fundus appears normal even when vision is decreased**, and the condition may be misdiagnosed as functional vision loss.
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# (Stargardt disease)
Caractéristique au FO?
**Initially, the fundus appears normal** even when vision is decreased, and the condition may be misdiagnosed as functional vision loss.
The first ophthalmoscopic changes observed are **loss of foveal reflex**, followed by development of a characteristic **macular bull’s eye atrophy** surrounded by **round or pisciform yellowish flecks**, which develop in the posterior pole at the level of the RPE.
Before the flecks develop, the macula often appears atrophic due to diseased RPE, inducing a **peculiar light-reflecting quality resembling that of beaten bronze**.
DONC (en ordre) :
* Normal
* Loss of foveal reflex
* Macular bull's eye atrophy
* Round or pisciform yellowish flecks
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# (Stargardt disease)
Que signifie « fundus flavimaculatus »?
If the flecks are scattered throughout the fundus, the condition may be referred to as fundus flavimaculatus.
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# (Stargardt disease)
Signe parfois présent à l'angiographie à la fluoresceine? Physiopathologie?
* The **“dark choroid” sign** on fluorescein angiography is distinctive but is not present in all patients.
* This phenomenon is **due to the accumulation of lipofuscin within the RPE, which blocks the choroidal fluorescence**.
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# (Stargardt disease)
Résultat du FAF dans un Stargardt disease?
FAF reveals both increased autofluorescence due to
* Lipofuscin accumulation in the RPE
* Reduced autofluorescence in areas of RPE atrophy and photoreceptor loss
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# (Stargardt disease)
Quel examen est-il préférable pour évaluation du Stargardt disease : FA ou FAF? Et pourquoi?
Fluorescein angiography has been largely replaced by **fundus autofluorescence (FAF) testing** for the confirmation of Stargardt disease.
FAF reveals both increased autofluorescence due to
* Lipofuscin accumulation in the RPE
* Reduced autofluorescence in areas of RPE atrophy and photoreceptor loss
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# (Stargardt disease)
Que peut-on voir à l'OCT d'un Stargardt disease?
OCT imaging of the macula can reveal
* Lipofuscin accumulation in the RPE
* Photoreceptor loss.
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# (Stargardt disease)
Résultat du CV dans un Stargardt disease?
* Results of visual field testing may be normal in the early stages of the disease.
* Disease progression will result in a **central scotoma**.
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# (Stargardt disease)
À quelle pathologie oculaire le Stargardt peut-il être présent en association?
Stargardt disease can be associated with a **progressive cone– rod dystrophy** that has a much worse visual prognosis and an extinguished ERG.
137
# (Stargardt disease)
Tx du Stargardt disease?
Gene therapy for Stargardt disease has been used in animal models and is being studied in phase 1/2a clinical trials in humans.
138
# (Best disease)
Synonyme de Classic Best disease
Juvenile- onset vitelliform macular dystrophy (VMD)
139
# (Best disease)
Type de transmission génétique
Classic Best disease, or juvenile- onset vitelliform macular dystrophy (VMD), is an **autosomal dominant retinal disorder** with **variable penetrance and expressivity**.
140
# (Best disease)
Mutation génétique et chromosome impliqué dans le Best disease
The condition is caused by mutations in the **BEST1 gene** on **chromosome 11**, which encodes for the protein bestrophin.
141
# (Best disease)
Acuité visuel des patients pendant childhood?
Patients usually present asymptomatically in childhood with the classic retinal appearance, or later in life with decrease in vision.
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# (Best disease)
Signes/Caractéristiques au FO (incluant les différentes stages)?
* The retina **may appear normal at first**, but between 4 and 10 years of age, the **“egg yolk,” or vitelliform**, stage begins.
* With time, the cystic material may become granular, giving rise to the **“scrambled egg” stage**.
* The cyst may rupture and become partially resorbed; a pseudohypopyon may form from cystic contents.
* **Choroidal neovascular membranes (CNVMs)** and **pigment epithelial detachments (PEDs)** develop in 20% of patients.
* **Subretinal hemorrhage** may occur, and visual acuity may deteriorate to 20/100 or worse.
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# (Best disease)
Vers quel âge environ débute le “egg yolk,” or vitelliform stage
The retina may appear normal at first, but **between 4 and 10 years of age**, the “egg yolk,” or vitelliform, stage begins.
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# (Best disease)
Caractéristiques du « egg yolk » (localisation, couleur, dimensions)?
* A **yellow-orange cyst-like structure** is seen, usually in the **macula**; however, the lesion may occur elsewhere, and occasionally there are multiple lesions.
* The lesions are usually **1.5–5.0 disc diameters in size**.
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# (Best disease)
L'AV d'un patient avec un egg yolk–like appearance?
The egg yolk– like appearance is associated with **good central vision**.
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# (Best disease)
Pourquoi le « egg yolk-like » évolue en « scrambled egg » stage?
With time, the cystic **material may become granular**, giving rise to the “scrambled egg” stage.
147
# (Best disease)
L'AV d'un patient avec un scrambled egg appearance?
At this stage, central vision usually remains good, with visual acuity roughly 20/30.
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# (Best disease)
Physiopathologie du « pseudo hypopion » dans le Best Disease?
The cyst may rupture and become partially resorbed; a pseudohypopyon may form from cystic contents.
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# (Best disease)
% de patients qui développent des choroidal neovascular membranes (CNVMs) and des pigment epithelial detachments (PEDs)
Choroidal neovascular membranes (CNVMs) and pigment epithelial detachments (PEDs) develop in **20%** of patients.
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# (Best disease)
À quoi ressemble le FAF dans Best Disease?
FAF reveals **central macular hyper-autofluorescence** due to vitelliform material.
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# (Best disease)
À quoi ressemble le FA dans Best Disease?
Fluorescein angiography reveals **central macular hyperfluorescence** due to **staining of the vitelliform material** as well as **late leakage from a CNVM**, if present.
*CNVM : choroidal neovascular membrane*
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# (Best disease)
À quoi ressemble l'OCT MAC dans Best Disease?
| (Best disease)
Spectral-domain CT (SD-OCT) imaging can further illustrate the central macular abnormalities.
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# (Best disease)
L'EOG et l'ERG sont normaux ou anormaux dans les Best disease?
This disorder is one of the few in which the EOG is abnormal and the ERG is normal.
EOG: Arden ratio < 1,5
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# (Best disease)
% de patients avec la mutation BEST1
BEST1 gene mutations are found in **60%–83%** of affected patients.
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# (Best disease)
Tx du Best disease?
No treatment is indicated unless subretinal neovascularization occurs.
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# (Juvenile retinoschisis)
Que signifie Juvenile retinoschisis?
Juvenile retinoschisis = splitting of the retina
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# (Juvenile retinoschisis)
Type de tranmission génétique
Juvenile retinoschisis (splitting of the retina) is an **X-linked disease** caused by mutations in the RS1 gene, which encodes for the retinal protein retinoschisin, an adhesion protein that is believed to be essential to the health of Müller cells.
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# (Juvenile retinoschisis)
Mutation génétique dans le Juvenile retinoschisis
Juvenile retinoschisis (splitting of the retina) is an X-linked disease caused by mutations in the **RS1 gene**, which encodes for the retinal protein retinoschisin, an adhesion protein that is believed to be essential to the health of Müller cells.
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# (Juvenile retinoschisis)
Molécule impliquée dans le mutation du gène RS1
Juvenile retinoschisis (splitting of the retina) is an X-linked disease caused by mutations in the RS1 gene, which encodes for the **retinal protein retinoschisin, an adhesion protein** that is believed to be essential to the health of Müller cells.
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# (Juvenile retinoschisis)
Prévalence selon sexe
**Affected males** usually present in early childhood with decreased vision.
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# (Juvenile retinoschisis)
Onset des sx dans le Juvenile retinoschisis?
* Affected males usually present in **early childhood with decreased vision**.
* Visual acuity varies but usually deteriorates to roughly 20/200.
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# (Juvenile retinoschisis)
Lequel des retinoschisis est le plus fréquent : foveal retinoschisis ou peripheral retinoschisis?
**Foveal retinoschisis** is present in almost all cases; peripheral retinoschisis, in approximately 50% of patients.
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# (Juvenile retinoschisis)
% de patients avec un foveal retinoschisis?
**Foveal** retinoschisis is present **in almost all cases**; peripheral retinoschisis, in approximately 50% of patients.
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# (Juvenile retinoschisis)
% de patients avec un pheripheral retinoschisis?
Foveal retinoschisis is present in almost all cases; **peripheral** retinoschisis, in approximately **50%** of patients.
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# (Juvenile retinoschisis)
À quelle phatologie le retinoschisis peut-il parfois ressembler (et par conséquent Dx trompeur)?
The fovea has a stellate or spoke-like configuration that may resemble cystoid macular edema; it becomes less distinct over time.
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# (Juvenile retinoschisis)
À quoi ressemble le SD-OCT?
SD-OCT shows schisis spaces in the middle layers of the macula.
167
# (Juvenile retinoschisis)
Complications d'un retinoschisis?
Complications include** vitreous hemorrhage** and **various types of retinal detachment**.
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# (Stickler syndrome)
V ou F : Stickler syndrome is a group of connective tissue disorders.
Vrai. Stickler syndrome is a group of connective tissue disorders with variable phenotypic expression.
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# (Stickler syndrome)
The most common type of Stickler syndrome (type de transmission, mutation génétique et molécule impliquée) ?
The most common type of Stickler syndrome is **autosomal dominant**, has ocular and systemic findings, and is caused by a mutation in **COL2A1**, the gene that encodes for **type II procollagen**.
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# (Stickler syndrome)
Atteinte systémique ou oculaire uniquement?
Stickler syndrome is a group of connective tissue disorders with variable phenotypic expression. Some mutations in the gene cause an ocular only phenotype.
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# (Stickler syndrome)
Common ocular abnormalities dans le Stickler Syndrome (x4)?
Common ocular abnormalities include
* An optically empty vitreous due to vitreous liquefaction
* High myopia
* Lattice degeneration
* Proliferative vitreoretinopathy
In addition, there is a **high incidence of retinal detachment** secondary to **retinal breaks**.
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# (Stickler syndrome)
Autres anomalies moins communes pouvant être associées au Stickler Syndrome?
Less common :
* Anterior chamber angle anomalies
* Ectopia lentis
* Cataracts
* Ptosis
* Strabismus
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# (Stickler syndrome)
Anomalies systémiques associées au Stickler Syndrome?
Characteristic systemic abnormalities are
* Flat midface
* Progressive hearing loss
* Cleft palate
* Pierre Robin sequence
* Mitral valve prolapse
* Progressive arthropathy with spondyloepiphyseal dysplasia.
Although the arthropathy may not be symptomatic initially, children with Stickler syndrome often show **radiographic abnormalities of the long bones and joints**, and associated symptoms develop.
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# (Stickler syndrome)
Pourquoi les DR sont ils plus difficles à Tx dans le Stickler Syndrome (que versus un DR habituel)?
The retinal detachments are often difficult to repair because these patients may have **large retinal breaks posteriorly** and the **incidence of proliferative vitreoretinopathy is high**.
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# (Knobloch syndrome)
Mutation génétique dans le Knobloch syndrome?
COL18A1
176
# (Knobloch syndrome)
Caractéristiques du FO d'un patient avec Knobloch syndrome (x3)?
The ocular phenotype is characterized by a distinct vitreoretinal degeneration
* **Very severe RPE atrophic changes** with **prominent choroidal vessels** out of proportion to the degree of myopia
* **Macular atrophic lesions** with or without a **“punched-out” appearance**
* **White fibrillar vitreous condensations**
177
# (Knobloch syndrome)
Patients atteints du Knobloch syndrome sont-ils plus à risque de DR versus population générale?
Oui. These eyes have a strong predisposition to spontaneous retinal detachment.
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# (Knobloch syndrome)
Caractéristiques/Anomalies a/n segment antérieur dans le Knobloch syndrome?
* Smooth (cryptless) irides are universal in affected eyes
* Ectopia lentis is an occasional finding
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# (Knobloch syndrome)
À quoi ressemble l'ERG d'un patient avec Knobloch syndrome?
ERG shows cone–rod dysfunction.
180
# (Knobloch syndrome)
Manifestations systémiques associées au Knobloch Syndrome?
Systemic manifestations are variable and not always present; they include
* Occipital abnormalities (ranging from scalp abnormalities to encephalocele)
* Congenital renal malformations
* Developmental delay
* Seizures
* Heterotopic gray matter
181
# (Knobloch syndrome)
Tx du Knobloch Syndrome?
Therapy is based on disease manifestations.
182
De quelle pathologie s'agit-il?
Knobloch Syndrome :
* RPE atrophic changes with prominent choroidal vessels
* Cryptless iris
* Scalp abnormality
183
# (Norrie disease)
Type de transmission génétique?
Norrie disease is an **X-linked recessive disorder** of retinal dysplasia caused by a mutation in the NDP gene, which encodes for the protein norrin.
184
# (Norrie disease)
Définir Norrie disease
Norrie disease is an X-linked recessive disorder of **retinal dysplasia** caused by a mutation in the NDP gene, which encodes for the protein norrin.
185
# (Norrie disease)
Prévalence selon le sexe
Affected boys are typically born blind and have varying degrees of hearing impairment and intellectual disability.
186
# (Norrie disease)
Sx cliniques des patients avec Norrie disease
* Typically born blind
* Varying degrees of hearing impairment
* Intellectual disability
187
# (Norrie disease)
FO des patients avec Norrie disease
The condition is characterized by a distinctive retinal appearance: a globular, severely dystrophic retina with pigmentary changes in the avascular periphery.
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# (Norrie disease)
Évolution du Norrie disease
* During the first few days or weeks of life, a **bilateral, yellowish retinal detachment appears**, followed by a **whiter mass behind the clear lens**.
* Over time, the lenses, and later the **cornea, opacify; phthisis bulbi** may ensue by age 10 years or earlier.
189
# (Norrie disease)
Les Females carriers peuvent-elles avoir des anomalies oculaires?
Female carriers show peripheral retinal abnormalities.
190
# (Norrie disease)
Tx de la dysplasie rétinienne?
No treatment exists when retinal dysplasia is severe.
191
# (Familial exudative vitreoretinopathy)
Définir le Familial exudative vitreoretinopathy (FEVR)?
Familial exudative vitreoretinopathy (FEVR) is a disease of **abnormal retinal vascularization** similar to that seen in ROP.
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# (Familial exudative vitreoretinopathy)
Localisation de l'abnormal retinal vascularization dans le FEVR?
There is failure of the **peripheral** retina to vascularize.
193
# (Familial exudative vitreoretinopathy)
Type de transmission génétique?
FEVR is typically **autosomal dominant**, but autosomal recessive and X-linked forms exist as well.
194
# (Familial exudative vitreoretinopathy)
Mutation génétique du FEVR?
Resulting from mutations in the same gene involved in Norrie disease (NDP).
195
# (Familial exudative vitreoretinopathy)
Ddx des deux pathologies ayant une mutation sur le gène NDP?
* Norrie disease
* Familial exudative vitreoretinopathy
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# (Familial exudative vitreoretinopathy)
Trouvailles possibles au pôlepostérieur qui sont associées au FEVR?
Posterior pole findings in FEVR include
* Retinal traction
* Folds
* Breaks
* Detachment secondary to vitreous traction
Posterior vitreous detachment and thick peripheral intraretinal and subretinal exudates may develop.
197
# (Familial exudative vitreoretinopathy)
Ddx du FEVR (x1)?
The disease is bilateral and can mimic ROP but affects infants born at full term.
198
# (Familial exudative vitreoretinopathy)
Fluorescein angiography d'un FEVR?
Fluorescein angiography shows **areas** of **retinal nonperfusion** and **neovascularization**.
199
# (Familial exudative vitreoretinopathy)
Tx du FEVR?
Cryopexy, photocoagulation, vitrectomy, and cataract surgery have been used to manage patients with this disorder.
200
# (Choroidal and Retinal Pigment Epithelial Lesions)
Concernant les pigmented fundus lesions :
* Bénin ou Malin?
* Fréquence d'un Flat choroidal neavus versus Malignant melanoma?
* A pigmented fundus lesion in a child is usually benign.
* Flat choroidal nevi are common and are not a cause for concern.
* Malignant melanoma of the choroid is extremely rare in children.
201
# (Choroidal and Retinal Pigment Epithelial Lesions)
Qu'est-ce qu'un Choroidal osteoma?
Choroidal osteoma is a **benign bony tumor** of the **uveal tract** that may occur in childhood, usually presenting with **decreased vision**.
202
# (Choroidal and Retinal Pigment Epithelial Lesions)
Caractéristiques au F.O. d'un congenital hypertophy of the retinal pigment epithelium (CHRPE)?
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a **sharply demarcated, flat, hyperpigmented lesion** that may be **isolated or multifocal**.
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# (Choroidal and Retinal Pigment Epithelial Lesions)
Comment appelle-t-on lésions de CHRPE regroupées?
Such lesions are sometimes grouped, in which case they are also called **bear tracks**.
*Selon Andrew : sous type du CHRPE, multiples CHRPE regroupés. Les taches vues dans un Gardner sont souvent appelé des CHRPE mais en réalité ce ne le sont pas, ils sont des « adénomes du RPE », forme ovoïdes distribution radiale au NO*
204
# (Choroidal and Retinal Pigment Epithelial Lesions)
Syndrome associé à des lésions similaires à des CHRPE?
* Pigmented lesions similar to CHRPE have been associated with **Gardner syndrome**, an autosomal dominant condition caused by a mutation in the APC gene, located at 5q22.2.
* Patients with Gardner syndrome have many polyps of the colon, which carry a very high risk for malignant transformation.
* Affected individuals often require a colectomy in early adulthood to prevent cancer.
* They may also have skeletal hamartomas and various other soft-tissue tumors.
205
# (Choroidal and Retinal Pigment Epithelial Lesions)
Type de transmission génétique du Syndrome de Gardner?
* Pigmented lesions similar to CHRPE have been associated with Gardner syndrome, an **autosomal dominant** condition caused by a mutation in the **APC gene**, located at 5q22.2.
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# (Choroidal and Retinal Pigment Epithelial Lesions)
Manifestations systémiques associée au Syndrome de Gardner?
* Pigmented lesions similar to CHRPE have been associated with Gardner syndrome, an autosomal dominant condition caused by a mutation in the APC gene, located at 5q22.2.
* Patients with Gardner syndrome have many **polyps of the colon, which carry a very high risk for malignant transformation**.
* Affected individuals often require a colectomy in early adulthood to prevent cancer.
* They may also have **skeletal hamartomas and various other soft-tissue tumors**.
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# (Choroidal and Retinal Pigment Epithelial Lesions)
Pigmented retinal lesions associated with Garner syndrome versus CHRPE?
The pigmented retinal lesions associated with Gardner syndrome are different from CHRPE in that they are **typically multiple, bilateral, and dispersed**; in addition, they often have a **surrounding halo and tail of depigmentation that is oriented radially and directed toward the optic nerve**.
208
# (Choroidal and Retinal Pigment Epithelial Lesions)
Caractéristiques d'un Combined hamartoma of the retina and RPE a/n du Fundus?
* Combined hamartoma of the retina and RPE is an ill-defined, elevated, variably pigmented tumor that may be juxtapapillary or located in the retinal periphery.
* The tumor is often minimally elevated; retinal traction and tortuous retinal vessels are often present.
* In peripheral tumors, dragging of the retinal vessels is a prominent feature.
* The tumors have a variable composition of glial tissue and RPE.
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# (Choroidal and Retinal Pigment Epithelial Lesions)
Pathologies associées à un combined hamartoma of the retina and RPE
This condition can be associated with
* Neurofibromatosis (type 1 or 2)
* Incontinentia pigmenti
* X-linked retinoschisis
* Facial hemangiomas.
Bilateral lesions in a child should raise suspicion for neurofibromatosis type 2.
210
Most common malignant intraocular tumor of childhood?
Retinoblastoma is the most common malignant intraocular tumor of childhood and one of the most common pediatric solid tumors, with an incidence of 1:14,000–1:20,000 live births.
211
# (Retinoblastoma)
Prévalence du rétinoblastome?
Retinoblastoma is the most common malignant intraocular tumor of childhood and one of the most common pediatric solid tumors, with an incidence of **1:14,000–1:20,000 live births**.
212
# (Retinoblastoma)
Concernant le rétinoblastome :
* Sexe?
* Ethnicité?
It is equally common in **both sexes** and has **no racial predilection**.
213
# (Retinoblastoma)
Type de tumeur?
Retinoblastoma is a neuroblastic tumor and is therefore biologically similar to neuroblastoma and medulloblastoma.
Donc :
* Solid Tumor
* Neuroblastic tumor
* Malin
214
# (Retinoblastoma)
La tumeur est-elle unilatérale ou bilatérale?
The tumor can be **unilateral or bilateral**; 30%–40% of cases are bilateral.
215
# (Retinoblastoma)
% de patients avec tumeur bilatérale?
The tumor can be unilateral or bilateral; **30%–40%** of cases are bilateral.
216
# (Retinoblastoma)
Âge lors Dx de la tumeur?
In **familial and bilateral **cases, retinoblastoma is typically diagnosed during the **first year of life**;
In **sporadic unilateral** cases, between **1 and 3 years of age**.
Approximately 90% of cases are diagnosed before 3 years of age; onset later than age 5 years is rare but can occur.
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# (Retinoblastoma)
Most common initial sign?
The most common initial sign is leukocoria (white pupillary reflex), which is usually first noticed by the family and described as a glow, glint, or cat’s-eye appearance.
218
# (Retinoblastoma)
Ddx de leukocoria?
219
# (Retinoblastoma)
% de patients se présente avec un strabisme?
Approximately 25% of cases present with strabismus (esotropia or exotropia).
220
# (Retinoblastoma)
Complétez la phrase suivant : Approximately 25% of cases present with _______.
Approximately 25% of cases present with strabismus (esotropia or exotropia).
221
# (Retinoblastoma)
Autres presentations associées au rétinoblastome (less common)?
Less common presentations include
* Vitreous hemorrhage
* Hyphema
* Ocular or periocular inflammation
* Glaucoma
* Proptosis
* Pseudohypopyon
222
# (Retinoblastoma)
3 types de pattern?
* Endophytic growth
* Exophytic tumors
* Diffuse infiltrative retinoblastoma
223
# (Retinoblastoma)
À quoi ressemble l’Endophytic growth?
* With endophytic growth, it appears as a white to cream-colored mass that breaks through the internal limiting membrane.
* Endophytic retinoblastoma is sometimes associated with vitreous seeding, in which individual cells or fragments of tumor tissue become separated from the main mass.
* Vitreous seeds may be few and localized or so extensive that the clinical picture resembles endophthalmitis.
* Occasionally, malignant cells enter the anterior chamber and form a pseudohypopyon.
224
# (Retinoblastoma)
Le vitreous seeding est associé à quel pattern?
Endophytic growth
225
# (Retinoblastoma)
À quoi ressemble l’Exophytic growth?
* Exophytic tumors are usually yellow-white and occur in the subretinal space; the overlying retinal vessels are commonly larger in caliber and more tortuous.
* Exophytic retinoblastoma growth is often associated with subretinal fluid accumulation, which can obscure the tumor and closely mimic the appearance of an exudative retinal detachment suggestive of advanced Coats disease.
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# (Retinoblastoma)
Le subretinal fluid est associé à quel pattern?
Exophytic growth
227
# (Retinoblastoma)
Pattern associé aux large tumors?
Large tumors often show signs of both endophytic and exophytic growth.
228
# (Retinoblastoma)
Apparence des petits rétinoblastomes?
Small retinoblastoma lesions appear as a grayish mass and are frequently confined between the internal and external limiting membranes.
229
# (Retinoblastoma)
À quoi ressemble diffuse infiltrative retinoblastoma?
* Diffuse infiltrative retinoblastoma is usually unilateral and nonhereditary.
* It is found in children older than 5 years.
* The tumor presents with conjunctival injection, anterior chamber seeds, pseudohypopyon, large clumps of vitreous cells, and retinal infiltration of tumor.
* Because no distinct tumor mass is present, diagnostic confusion with inflammatory conditions is common.
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# (Retinoblastoma)
Pathologies pouvant simulées un rétinoblastome (Ddx du rétinoblastome)?
* Coats disease
* Astrocytic hamartomas
* Hemangioblastomas
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# (Retinoblastoma)
Comment différencier un Coat disease d’un rétinoblastome?
Suggests Coats disease :
* Presence of crystalline material
* Extensive subretinal fluid
* Peripheral vascular abnormalities
* Absence of calcium
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# (Retinoblastoma)
Caractéristique aidant à différencier les astrocytic hamartomas et les hemangioblastomas des rétinoblastomes?
Astrocytic hamartomas and hemangioblastomas are benign retinal tumors that may simulate the appearance of small retinoblastomas. Both are **usually associated with neuro-oculocutaneous syndromes**.
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# (Retinoblastoma)
Ix pertinente dans l’évaluation d’un rétinoblastome?
Evaluation of a patient with presumed retinoblastoma requires imaging of the head and orbits, which can confirm the diagnosis and assess for extraocular extension and intracranial disease.
* CT is discouraged because of the possible increased risk of secondary tumors due to radiation exposure.
* **MRI** and **ultrasonography** are recommended.
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# (Retinoblastoma)
Indication d’aspiration of ocular fluids for Dx?
Aspiration of ocular fluids for diagnostic testing should be performed only under the most unusual circumstances because such procedures **can disseminate malignant cells**.
Recently, however, it was demonstrated that cell-free tumor-derived DNA may be obtained from aqueous humor.
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# (Retinoblastoma)
Characteristic histologic features of retinoblastoma?
The characteristic histologic features of retinoblastoma include
* Flexner-Wintersteiner rosettes (usually present)
* Fleurettes (less common)
Both represent limited degrees of retinal cellular differentiation.
Homer Wright rosettes are also frequently present but are less specific for retinoblastoma because they are common in other neuroblastic tumors.
Calcification of varying extent is usually present.
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# (Retinoblastoma)
Mutation génétique impliquée dans le rétinoblastome
The retinoblastoma gene (**RB1**) maps to a locus within the q14 band of chromosome 13 and codes for a protein, pRB, that suppresses tumor formation.
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# (Retinoblastoma)
Chromosome impliqué dans le rétinoblastome?
The retinoblastoma gene (RB1) maps to a locus within the q14 band of **chromosome 13** and codes for a protein, pRB, that suppresses tumor formation.
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# (Retinoblastoma)
Quelle est l’action du gène RB?
The retinoblastoma gene (RB1) maps to a locus within the q14 band of chromosome 13 and codes for a protein, pRB, that **suppresses tumor formation**.
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# (Retinoblastoma)
Types d'acquisition du rétinoblastome (aka transmission)?
Rétinoblastome **non héréditaire** (rétinoblastome sporadique)
Rétinoblastome **héréditaire**
* Le rétinoblastome héréditaire peut être **familial ou sporadique**
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# (Retinoblastoma)
% de rétinoblastomes qui sont non héréditaires?
* Le rétinoblastome non héréditaire, aussi appelé rétinoblastome sporadique, apparaît par hasard.
* Environ 60 % des rétinoblastomes ne sont pas héréditaires.
* Les enfants naissent avec 2 copies normales du gène RB1.
* Une mutation dans un rétinoblaste à l’intérieur de ces deux copies provoque la formation d’un rétinoblastome dans l’œil.
* Le rétinoblastome non héréditaire n’apparaît que dans un seul œil (rétinoblastome unilatéral).
* L’enfant atteint de ce type de rétinoblastome ne transmet habituellement pas de mutation RB1 à ses propres enfants.
Approximately 60% of retinoblastoma cases arise from somatic nonhereditary mutations of both alleles of RB1 in a retinal cell.
These mutations generally result in unifocal and unilateral tumors.
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# (Retinoblastoma)
Comment s'aquière le rétinoblastome non hériditaire?
* Les enfants naissent avec 2 copies normales du gène RB1.
* Une mutation dans un rétinoblaste à l’intérieur de ces deux copies provoque la formation d’un rétinoblastome dans l’œil.
* Le rétinoblastome non héréditaire n’apparaît que dans un seul œil (rétinoblastome unilatéral).
* L’enfant atteint de ce type de rétinoblastome ne transmet habituellement pas de mutation RB1 à ses propres enfants.
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# (Retinoblastoma)
L’atteinte d’un rétinoblastome non hérité est-elle unifocale ou multifocale, unilatérale ou bilatérale?
* Approximately 60% of retinoblastoma cases arise from somatic nonhereditary mutations of both alleles of RB1 in a retinal cell.
* These mutations generally result in **unifocal** and **unilateral** tumors.
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# (Retinoblastoma)
% de rétinoblastomes qui sont non héréditaires?
* Le rétinoblastome héréditaire est transmis de la mère ou du père à l’enfant.
* Environ **40 %** des rétinoblastomes sont héréditaires.
* Le rétinoblastome héréditaire peut être familial ou sporadique.
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# (Retinoblastoma)
Différence entre le rétinoblastome héréditaire familial versus sporadique?
* Le rétinoblastome héréditaire peut être familial ou sporadique.
* Dans le cas du rétinoblastome héréditaire familial, l’un des parents de l’enfant ou un autre membre de sa famille a déjà été atteint d’un rétinoblastome.
* Dans le cas du rétinoblastome héréditaire sporadique, personne d’autre dans la famille n’a déjà été d’atteint d’un rétinoblastome.
* La mutation du gène RB1 se produit dans l’ovule ou le spermatozoïde avant la conception du bébé (mutation de la lignée germinale) et est transmise à l’enfant.
* Dans tous les cas de rétinoblastome héréditaire, l’enfant naît avec une copie de la mutation RB1 dans toutes les cellules de son corps. Une mutation de la deuxième copie du gène RB1 se produit alors dans les cellules rétinoblastiques, ce qui provoque la formation d’un rétinoblastome.
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# (Retinoblastoma)
L’atteinte d’un rétinoblastome hériditaire est-elle unifocale ou multifocale, unilatérale ou bilatérale?
Often multicentric and bilateral.
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# (Retinoblastoma)
Utilité du The International Classification of Retinoblastoma?
The International Classification of Retinoblastoma is **useful for predicting the success of chemoreduction**.
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# (Retinoblastoma)
Décrire la classification du « The International Classification of Retinoblastoma »
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# (Retinoblastoma)
Utilisation de la RxTx pour le Tx du rétinoblastome? Et pourquoi?
RxTx rarement utilisée.
External-beam radiation is seldom used to treat intraocular retinoblastoma because of its **high association with development of craniofacial deformity and secondary tumors in the field of radiation. **
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# (Retinoblastoma)
Indication de l'énuclétion?
Lorsque le Px visuel est pauvre + neovascular glaucoma, anterior chamber infiltration (qui dépasse l'hyaloïde antérieure), optic nerve invasion (postérieure à la lame criblée), , hg vitrée qui obstrue la vision de la tumeur, hyphéma important, phtisis vs pré phtisis, présentation cellulite like
* When the likelihood of salvaging vision is low, primary enucleation of eyes with advanced unilateral retinoblastoma is often performed to avoid the adverse effects of systemic chemotherapy.
* To prevent extraocular spread of the tumor, the surgeon should minimize manipulation of the globe and obtain a long segment of optic nerve.
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# (Retinoblastoma)
Tx des petits rétinoblastomes?
Small retinoblastoma tumors can often be treated with either **laser photocoagulation or cryotherapy**.
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# (Retinoblastoma)
Tx des larger tumors et des rétinoblastomes bilatéraux?
**Primary systemic chemotherapy (chemoreduction) followed by local therapy (consolidation)** has been used to spare vision for larger tumors and is often used in cases of bilateral retinoblastoma.
Chemotherapy is rarely successful when used alone and often requires local therapy (cryotherapy, laser photocoagulation, thermotherapy, or plaque radiotherapy) as well.
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# (Retinoblastoma)
Adverse effects of chemoreduction treatment
Adverse effects of chemoreduction treatment include
* Low blood count
* Hair loss
* Hearing loss
* Renal toxicity
* Neurologic and cardiac disturbances
* Possible increased risk for acute myelogenous leukemia.
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# (Retinoblastoma)
Alternative to systemic chemoreduction for unilateral retinoblastoma? Autre type de chimiothérapie?
* **Intraarterial** chemotherapy has recently been reported as an alternative to systemic chemoreduction for unilateral retinoblastoma in group B, C, D, or E eyes.
* Chemotherapy is **delivered via cannulation of the ophthalmic artery** in single or multiple sessions.
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# (Retinoblastoma)
Complications de l'intraarterial chemotherapy?
Systemic complications include
* Neutropenia
* Metastasis
Ocular complications include
* Vascular occlusion
* Blepharoptosis
* Cilia loss
* Temporary dysmotility
* Periocular edema in the distribution of the supratrochlear artery.
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# (Retinoblastoma)
Indications de la chiomiothx intravitréenne?
* Intravitreal chemotherapy has been used for **refractory and recurrent vitreous seeding** from retinoblastoma.
* Periocular injections have been used for **adjuvant chemotherapy**.
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# (Retinoblastoma)
Manifestations extraoculaires du rétinoblastome? Localisation des métastases?
* Extraocular retinoblastoma, though uncommon in the United States, is still problematic in developing countries, primarily because of delay in diagnosis.
* The 4 major types are optic nerve involvement, orbital invasion, central ner vous system (CNS) involvement, and distant metastasis (bone, lungs, node)
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# (Retinoblastoma)
Qu'est-ce que le rétinoblastome trilatéral?
L’enfant atteint d’un rétinoblastome héréditaire risque d’avoir un rétinoblastome trilatéral. Le rétinoblastome trilatéral est caractérisé par la formation d’un pinéoblastome ainsi que d’un rétinoblastome dans les deux yeux (rétinoblastome bilatéral). Le pinéoblastome est un type de cancer du cerveau chez l’enfant qui apparaît dans le corps pinéal. Le corps pinéal est une glande située dans le cerveau qui contrôle le cycle du sommeil et qui joue un rôle dans la maturation sexuelle.
Le rétinoblastome trilatéral se manifeste habituellement 20 mois ou plus après un diagnostic de rétinoblastome. Les médecins recommandent fréquemment que l’enfant passe un examen d’IRM aussi souvent qu’aux 6 mois au cours des 5 premières années qui suivent le diagnostic de rétinoblastome.
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# (Retinoblastoma)
Pronostic du rétinoblastome?
* Longterm disease-free survival is possible if the CNS is not involved; otherwise, the prognosis is usually poor.
* Patients with trilateral retinoblastoma have a primitive neuroectodermal tumor (PNET) of the pineal gland or parasellar region in addition to retinoblastoma.
* In patients with unilateral retinoblastoma, the risk of trilateral retinoblastoma has been less than 0.5%; in those with bilateral retinoblastoma, less than 5%–15%.
* However, the rate of trilateral retinoblastoma appears to be lower in patients treated with chemoreduction.
* Treatment usually involves a multimodal approach, and the prognosis is poor.
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V ou F : Identification of RB1 mutations is very useful in determining how frequently to monitor patients.
Vrai. Identification of RB1 mutations is very useful in determining how frequently to monitor patients.
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# retinoblastoma
V ou F : Patients with unilateral tumors who have somatic mutations are at risk for development of additional tumors (ocular or systemic).
Faux. Patients with unilateral tumors who have somatic mutations are NOT at risk for development of additional tumors (ocular or systemic).
(somatic nonhereditary mutations)
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Fréquence du suivi chez patients qui subissent une récupération du globe (aka pas d'exentération)?
* Patients who undergo globe salvage require **frequent examinations** to monitor for tumor recurrence.
* In these patients, examinations under anesthesia are typically performed **every 4–8 weeks until age 3 years**.
* Recurrence of retinoblastoma is common and can occur years after treatment.
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Suivi nécessaire pour des germline mutations (rétinoblastomes héréditaires)?
In patients with germline mutations, **periodic MRI** of the brain is performed to screen for CNS metastases and PNET, which have poor prognoses.
PNET : Primitive Neuro-Ectodermal Tumors
* Because of their risk of developing secondary malignancies, patients with germline mutations require **long-term follow-up** by oncologists and ophthalmologists.
* **Nonocular tumors** are common in these patients; the estimated incidence rate is **1% per year of life** (eg, 10% prevalence by age 10 years, 30% by age 30 years).
* The incidence is **higher among patients treated with external beam radiation before 1 year of age**.
* The most common secondary tumors (and the mean age at diagnosis) are **PNET** (2.7 years), **sarcoma** (13 years), **melanoma** (27 years), and **carcinomas** (29 years).
* For patients with second nonocular tumors, the risk of additional malignant tumors is even greater.
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Devrait-on suivre les siblings? Et si oui, à quelle période?
* Results of genetic testing can also help determine whether siblings need to be monitored.
* If genetic testing is not available, siblings should be monitored routinely during the first 2 years of life.
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# (Coats Disease)
Classic findings in Coats disease?
The classic findings in Coats disease are **yellow subretinal and intraretinal lipid exudates** associated with **retinal vascular abnormalities** - most often
* telangiectasia
* tortuosity
* aneurysmal dilatations
* retinal capillary nonperfusion
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# (Coats Disease)
Concernant le Coats Disease :
* Présentation clinique?
* H versus F?
* Unilatérale versus Bilatérale?
* Âge du patient au Dx?
* The clinical presentation varies, ranging from **mild changes to total retinal detachment**
* **Males** are affected more frequently than females, and the condition is usually, but not always, **unilateral**
* The average age at **diagnosis is 6–8 years**, but the disease has also been observed in infants
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# (Coats Disease)
Dx du Coat Disease
The diagnosis of Coats disease requires the presence of abnormal retinal vessels, which occasionally are small and difficult to find.
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# (Coats Disease)
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# (Coats Disease)
D'où provient les exsudats sous-rétiniens dans le Coats Disease?
The subretinal exudate is thought to come from the leaking anomalous vessels.
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# (Coats Disease)
Examen supplémentaire pertinent pour le Coats Disease?
Fluorescein angiography may be helpful in identifying leakage from the telangiectatic vessels and in assessing the effectiveness of therapy
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# (Coats Disease)
Ddx du Coats Disease
The differential diagnosis includes
* persistent fetal vasculature
* ROP
* toxocariasis
* FEVR
* Norrie disease
* retinal dysplasia
* endophthalmitis
* leukemia
* retinoblastoma
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# (Coats Disease)
Caractéristique qui distingue le Coats Disease d'un rétinoblastome à l'échographie?
Calcium is frequently detected by ultrasonography in retinoblastoma but is distinctly rare in Coats disease.
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# (Coats Disease)
Décrire le reflet rouge du patient avec Coats Disease.
Coats disease often presents with **xanthocoria (yellow pupillary reflex)**, whereas retinoblastoma presents with leukocoria.
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# (Coats Disease)
Objectif du Tx?
Treatment is directed at **obliterating the abnormal leaking vessels** and includes cryotherapy, laser photocoagulation, vitrectomy, and silicone oil.
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# (Coats Disease)
Complications associées à la progresse de la maladie?
**Exudative retinal detachments** and **subretinal fibrosis** develop in eyes with progressive disease.
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# (Coats Disease)
Signe d'un mauvais Px à l'e/o d'un patient avec Coats Disease?
Once the **fovea is detached and the subretinal exudate becomes organized**, the prognosis for restoration of central vision is poor.
