25 - Disorders of the Retina and the Vitreous Flashcards
(Retinopathy of Prematurity)
Définir la ROP
Retinopathy of prematurity (ROP) is a vasoproliferative retinal disorder unique to premature infants.
(Retinopathy of Prematurity)
V ou F : ROP is a leading cause of childhood blindness in the United States.
Vrai. ROP is a leading cause of childhood blindness in the United States, second only to cerebral visual impairment.
(Retinopathy of Prematurity)
À quel âge gestationnel début la vascularisation rétinienne?
Retinal vascularization begins during week 16 of gestation.
(Retinopathy of Prematurity)
Développement de la vascularisation rétinienne (aka à quel endroit début-il et termine-t-il?)
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.
(Retinopathy of Prematurity)
Quel endroit est-il vascularisé en premier : ora serrata en nasal ou en temporal?
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.
(Retinopathy of Prematurity)
Que se passe-t-il a/n de la vascularisation rétinienne à 36 semaines d’AG?
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.
(Retinopathy of Prematurity)
Que se passe-t-il a/n de la vascularisation rétinienne à 40 semaines d’AG?
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.
(Retinopathy of Prematurity)
Facteurs qui influençent le développement de vx anormaux chez n-nés prématurés (x2)?
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).
(Retinopathy of Prematurity)
Combien de « phase processes » dans la physiopathologie de la ROP
(Retinopathy of Prematurity)
Décrire la Phase 1 de la physopathologie de la ROP. À quel AG survient-elle?
(Retinopathy of Prematurity)
Décrire la Phase 2 de la physopathologie de la ROP. À quel AG survient-elle?
(Retinopathy of Prematurity)
Tx de la ROP (x2)
(Retinopathy of Prematurity)
The International Classification of Retinopathy of Prematurity (ICROP) décrit la maladie selon 3 critères, quels sont-ils?
The International Classification of Retinopathy of Prematurity (ICROP) describes the disease by
* Location (zone)
* Stage
* Extent
(Retinopathy of Prematurity)
Qu’est-ce qui indique une ROP sévère :
* Stage : Higher ou Lower stage numbers?
* Zone : Higher ou Lower zone numbers?
Higher stage numbers and lower zone numbers indicate more severe ROP.
(Retinopathy of Prematurity)
Que signifie « Plus disease » dans la ROP?
- 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)
(Retinopathy of Prematurity)
Vrai ou Faux : Le « Plus disease » dans la ROP est considéré comme étant une forme sévère de la maladie?
Vrai. It implies vascular shunting through the new vessels and signifies severe disease.
(Retinopathy of Prematurity)
Que signifie « Pre-Plus disease » dans la ROP? (Classification ICROP)
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
(Retinopathy of Prematurity)
Que signifie « Aggressive posterior ROP » dans la ROP? (Classification ICROP)
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.
(Retinopathy of Prematurity)
Que se produit-il si la forme « Aggressive posterior ROP (APROP) » n’est pas traitée? (Classification ICROP)
Without treatment, APROP typically progresses quickly to stage 4 or 5 ROP.
(Retinopathy of Prematurity)
Définir les différentes zones
(Retinopathy of Prematurity)
Décrire le stage 1 de la ROP (Classification ICROP)
(Retinopathy of Prematurity)
Décrire le stage 2 de la ROP (Classification ICROP)
(Retinopathy of Prematurity)
Décrire le stage 3 de la ROP (Classification ICROP)
(Retinopathy of Prematurity)
Décrire le stage 4 de la ROP (Classification ICROP)
(Retinopathy of Prematurity)
Décrire le stage 5 de la ROP (Classification ICROP)
(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
(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.
(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
(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.
(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.
(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).
(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.
(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.
(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.
(Retinopathy of Prematurity)
Évolution de la majorité des ROP?
Most ROP regresses spontaneously via involution
(Retinopathy of Prematurity)
Intervalles de F/U suggérés pour la ROP?
(Retinopathy of Prematurity)
Critères pour discontinuer ROP screening examinations?
(Retinopathy of Prematurity)
% de patients avec ROP qui nécessitent un Tx?
Approximately 10% of infants examined for ROP require treatment.
(Retinopathy of Prematurity)
Le Tx de la ROP est basé sur quelle étude?
Current treatment guidelines are based on results of the ETROP trial.
(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
(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.
(Retinopathy of Prematurity)
Classification : Location : Zone 3
Zone 3 : The remaining temporal periphery
(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.
(Retinopathy of Prematurity)
Classification : Severity : Stage 1
Stage 1 : Flate demarcation line separating the vascular posterior retina from the avascular peripheral retina
(Retinopathy of Prematurity)
Classification : Severity : Stage 2
Stage 2 : Ridged demarcation line
(Retinopathy of Prematurity)
Classification : Severity : Stage 3
Stage 3 : Ridged demarcation line with fibrovascular proliferation or neovascularization extending from the ridge
(Retinopathy of Prematurity)
Classification : Severity : Stage 4A
Stage 4A : Extrafoveal partial retinal detachment
(Retinopathy of Prematurity)
Classification : Severity : Stage 4B
Stage 4B : Fovea-invilving partial retinal detachment
(Retinopathy of Prematurity)
Classification : Severity : Stage 5
Stage 5 : Total retinal detachment
(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
(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
(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.
(Retinopathy of Prematurity)
But du Tx dans la ROP
Therapeutic goal is ablation of avascular peripheral retina with near-confluent spots.
(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.
(Retinopathy of Prematurity)
Qui traiter : Type 1 ou Type 2?
- Type 1 ROP needs treatment
- Type 2 ROP should be followed closely
(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.
(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.
(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.
(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.
(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.
(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.
(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.
(Hereditary Retinal Disease)
Ddx of Paradoxical Pupils
(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
(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.
(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.
(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.
(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.
(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
(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.
(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.
(Leber congenital amaurosis)
Type d’erreur réfractive associé au Leber congenital amaurosis?
High refractive errors, usually high hyperopia, are common.
(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.
(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.
(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%).
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.
(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.
(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.
(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
(Achromatopsia)
Findings on retinal examination
Findings on retinal examination are usually normal, with the possible exception of a poor or absent foveal reflex.
(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.
(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.
(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.
(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.
(Achromatopsia)
Type de transmission associée au Incomplete achromatopsia
Autosomal recessive
(Achromatopsia)
Type de transmission associée au Blue- cone monochromatism
X-linked disorder
(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.
(Achromatopsia)
Commentez l’ERG d’un patient avec incomplete achromatopsia
In incomplete achromatopsia, some residual cone function is observed on ERG testing.
(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.
(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.
(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.
(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.
(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.
(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.
(Congenital stationary night blindness)
Type d’erreur réfractive chez les patients avec Congenital stationary night blindness
These forms are often also associated with myopia.
(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.
(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
(Congenital stationary night blindness)
Tx du Congenital stationary night blindness
Bright illumination should be used for visual tasks and refractive errors corrected.
(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.
(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.
(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.
(Foveal hypoplasia)
Comment Dx une hypoplasie fovéolaire?
- Fundus examination showing foveal hypoplasia is diagnostic.
- OCT may be useful.
(Foveal hypoplasia)
Tx de l’hypoplasie fovéolaire?
No treatment is currently available.
(Aicardi syndrome)
Type de transmission
Aicardi syndrome is a presumed X-linked autosomal dominant disorder.
(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.
(Aicardi syndrome)
% de patients avec Chorioretinal lacunae?
Chorioretinal lacunae have been shown to occur in 88% of patients.
(Aicardi syndrome)
% de patients avec optic nerve abnormalities?
Optic nerve abnormalities have been shown to occur in 81% of patients.
(Aicardi syndrome)
Autres manifestations ophtalmiques associées
May also occur
*Optic nerve AN
* Colobomas
* Persistent pupillary membranes
* Microphthalmia
(Aicardi syndrome)
Aicardi syndrome est léthal pour quel sexe?
Aicardi syndrome is typically lethal in males.
(Aicardi syndrome)
Caractéristique particulière de l’Aicardi syndrome chez les H?
Aicardi syndrome is typically lethal in males.
(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
(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
(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.
(Best disease)
À quoi ressemble le FAF dans Best Disease?
FAF reveals central macular hyper-autofluorescence due to vitelliform material.
(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
(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.
(Juvenile retinoschisis)
À quoi ressemble le SD-OCT?
SD-OCT shows schisis spaces in the middle layers of the macula.
(Juvenile retinoschisis)
Complications d’un retinoschisis?
Complications include** vitreous hemorrhage** and various types of retinal detachment.
(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
(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
(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
De quelle pathologie s’agit-il?
Knobloch Syndrome :
* RPE atrophic changes with prominent choroidal vessels
* Cryptless iris
* Scalp abnormality
(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.
(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.
(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.
(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.
(Retinoblastoma)
Ddx de leukocoria?
(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.
(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.
(Retinoblastoma)
Décrire la classification du « The International Classification of Retinoblastoma »
(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.
(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
