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Pédiatrie > 21 - Disorders of the Anterior Segment > Flashcards

21 - Disorders of the Anterior Segment Flashcards

1
Q

(Abnormalities of the Iris)

The most common developmental abnormality of the iris?

A

Persistent pupillary membrane is the most common developmental abnormality of the iris.

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2
Q

(Persistent pupillary membrane)

% de newborns avec une Persistent pupillary membrane

A
  • It can be seen in approximately 95% of newborns.
  • Remnants are common in older children and adults.
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3
Q

(Persistent pupillary membrane)

V ou F : Persistent pupillary membranes are usualy visually significant.

A

Faux. Persistent pupillary membranes are rarely visually significant.

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4
Q

(Persistent pupillary membrane)

Que peut-il se produire si la Persistent pupillary membrane est très proéminente?

A

If especially prominent, they can adhere to the anterior lens capsule, causing a small anterior polar cataract.

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5
Q

(Persistent pupillary membrane)

V ou F. Persistent pupillary membranes may be associated with other anterior segment abnormalities.

A

Vrai. Persistent pupillary membranes may be associated with other anterior segment abnormalities.

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6
Q

(Iris hypoplasia)

  • Définir Iris hypoplasia
  • Terminologie d’une hypoplasie focale
  • Terminologie d’une hypoplasie diffuse
  • Quand peut-on observer transillumination de l’iris dans un contexte d’hypoplasie?
A
  • Iris hypoplasia refers to an underdeveloped iris stroma.
  • It may be focal (iris coloboma) or diffuse (aniridia).
  • If only the posterior pigment epithelium is underdeveloped, iris transillumination occurs.
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7
Q

The commonest cause of iris (stromal) hypoplasia

A

Axenfeld- Rieger syndrome (ARS) is the commonest cause of iris (stromal) hypoplasia.

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8
Q

(Axenfeld- Rieger syndrome)

Characteristic findings ARS (x3)

A

Characteristic findings include
* Posterior embryotoxon with attached iris strands
* Iris hypoplasia.

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9
Q

(Axenfeld- Rieger syndrome)

Définir Posterior embryotoxon

A

Posterior embryotoxon : Clinical and histologic term referring to displacement of Schwalbe’s line anterior to the limbus in the cornea

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10
Q

(Axenfeld- Rieger syndrome)

Complication fréquente associée au ARS?

A

Glaucoma

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11
Q

(Axenfeld- Rieger syndrome)

Lifetime risk of glaucoma of patients with ARS?

A

These patients have a 50% lifetime risk of glaucoma.

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12
Q

(Axenfeld- Rieger syndrome)

V ou F : ARS is a spectrum that shows phenotypic and genetic heterogeneity.

A

Vrai.
* ARS is a spectrum that shows phenotypic and genetic heterogeneity.
* Conditions previously considered distinct— such as Axenfeld anomaly, Rieger anomaly or syndrome, iridogoniodysgenesis anomaly or syndrome, iris hypoplasia, and familial glaucoma iridogoniodysplasia— are now recognized as part of the spectrum of ARS.

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13
Q

(Axenfeld- Rieger syndrome)

Ocular features of ARS

A

The features of ARS range from a smooth, cryptless iris surface to a phenotype that mimics aniridia.

Examples include
* Mild stromal thinning
* Marked atrophy with hole formation
* Corectopia
* Ectropion uveae.

Posterior embryotoxon, megalocornea (secondary to glaucoma), or microcornea may occur.

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14
Q

(Axenfeld- Rieger syndrome)

Anomalies NON oculaires associées au ARS?

A

Associated nonocular abnormalities include
* Abnormal teeth
* Distinct facies
* Redundant periumbilical skin
* Hypospadias
* Cardiac valve abnormalities
* Pituitary abnormalities.

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15
Q

(Axenfeld- Rieger syndrome)

Mutations génétiques associées au ARS?

A

Heterozygous mutations in PITX2 or FOXC1, homeobox genes that regulate other ocular developmental genes, are the most common identifiable cause.

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16
Q

(Iris transillumination)

Structures atteintes dans l’Iris transillumination

A

Iris transillumination results from the absence of pigment in the posterior epithelial layers (albinism) or from iris hypoplasia (as part of anterior segment dysgenesis, as in ARS).

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17
Q

(Iris transillumination)

Syndromes/Maladies associés avec une transillumination de l’iris

A

Iris transillumination has been reported in
* Albinism
* Axenfeld- Rieger syndrome (ARS)
* Marfan syndrome
* Prader- Willi syndrome
* Ectopia lentis et pupillae
* X- linked megalocornea
* Microcoria (« congenital miosis »)

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18
Q

(Iris transillumination)

Exemples de Patchy areas of transillumination.

A

Patchy areas of transillumination can also be seen after
* Trauma
* Surgery
* Uveitis

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19
Q

(Iris transillumination)

V ou F : Scattered iris transillumination defects may be a normal variant in individuals with very lightly pigmented irides.

A

Vrai. Scattered iris transillumination defects may be a normal variant in individuals with very lightly pigmented irides.

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20
Q

(Coloboma of the iris)

Localisation d’un colobome de l’iris.

A

With a typical inferonasal iris coloboma, the pupil is shaped like a lightbulb, keyhole, or inverted teardrop.

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21
Q

(Coloboma of the iris)

Autres structures pouvant être atteintes avec un colobome de l’iris?

A

Typical colobomas may also involve the lens, ciliary body, choroid, retina, or optic nerve and are part of the MAC spectrum.

Microphthalmia, anophthalmia, and coloboma (MAC) is a spectrum that may be isolated or syndromic.

Seulement lorsque le colobome est classique = inféronasal

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22
Q

(Coloboma of the iris)

V ou F : Parents of an affected child don’t have a history of chorioretinal or iris defects in an inferonasal location.

A

Faux. Parents of an affected child may have small, previously undetected chorioretinal or iris defects in an inferonasal location; thus, careful examination of family members is indicated.

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23
Q

(Coloboma of the iris)

Que signifie atypical colobomas?

A

Atypical iris colobomas
* Occur in areas other than the inferonasal quadrant
* Are not usually associated with posterior uveal colobomas.

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24
Q

(Coloboma of the iris)

Causes des atypical colobomas?

A

These colobomas probably result from fibrovascular remnants of the anterior hyaloid system and pupillary membrane.

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25
Q

(Aniridia)

Définir l’Aniridie.

A
  • Classic aniridia is a panocular bilateral disorder.
  • The term is a misnomer, however, because at least a rudimentary iris is always present.
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26
Q

(Aniridia)

The degree of iris formation in Aniridia

A

The degree of iris formation ranges from almost total absence to only mild hypoplasia, overlapping with ARS.

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27
Q

(Aniridia)

Typical presentation of aniridia in infants

A

The typical presentation is an infant
* With nystagmus
* Who appears to have absent irides or dilated, unresponsive pupils.

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28
Q

(Aniridia)

Autres anomalies oculaires assocées à l’Aniridie

A
  • Examination findings commonly include small anterior polar lens opacities, at times with attached strands of persistent pupillary membranes.
  • Foveal hypoplasia is usually present, with visual acuity often less than 20/100.
  • Glaucoma, typically juvenile, and optic nerve hypoplasia are common.
  • Corneal opacification often develops later in childhood and may lead to progressive deterioration of visual acuity.
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29
Q

(Aniridia)

Cause de la corneal abormality dans l’aniridie? Traitement?

A
  • The corneal abnormality is due to a stem cell deficiency
  • Therefore, keratolimbal allograft stem cell transplantation may be a more effective treatment than corneal transplantation.
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30
Q

(Aniridia)

Concernant l’Aniridie :
* Mutation génétique?
* Chromosome impliqué?
* Hx familiale?

A
  • Heterozygous PAX6 gene mutations (11p13) cause classic aniridia, particularly nonsense mutations (haploinsufficiency).
  • Missense mutations are more likely associated with variable expressivity and partial phenotypes.
  • Most (approximately two- thirds) aniridic children have the familial form.

Donc :
* Mutation : PAX6
* Chromosome : 11
* Hx familiale : Forme familiale 2/3 des enfants atteints

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31
Q

(Aniridia)

Autre gène situé près du PAX6 pouvant être atteint? Conséquence?

A

Approximately one- third of aniridia cases result from new deletions that, if large enough, can also affect the contiguous WT1 gene (a contiguous gene syndrome); such patients are therefore at risk for Wilms tumor (nephroblastoma) before 5 years of age.

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32
Q

(Aniridia)

Syndrome à rechercher lors d’aniridie?

A

This phenotype is part of the WAGR syndrome
* Wilms tumor
* Aniridia
* Genitourinary malformations
* Mental Retardation

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33
Q

(Aniridia)

Enfants avec Aniridie les plus à risque d’une Wilms tumor?

A
  • All children with sporadic aniridia should undergo chromosomal deletion analysis of 11p13 to exclude increased Wilms tumor risk.
  • Familial aniridia does not carry a significant risk, although there have been rare reports of Wilms tumor associated with familial aniridia.
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34
Q

(Congenital iris ectropion)

Définir l’ectopion? Structures impliquées?

A

Ectropion of the posterior pigment epithelium onto the anterior surface of the iris is sometimes termed ectropion uveae, but this is a misnomer because posterior iris epithelium is derived from neural ectoderm and is not considered part of the uvea.

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35
Q

(Congenital iris ectropion)

Concernant le congenital iris ectropion : est-il congénital ou acquis?

A

Congenital iris ectropion can occur
* As an acquired tractional abnormality, often associated with rubeosis iridis, or
* As a congenital nonprogressive abnormality
* Which can be associated with later glaucoma.

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36
Q

(Congenital iris ectropion)

Maladies associées avec un congenital iris ectropion (x 3) ?

A

It may occur in patients with
* Neurofibromatosis
* Facial hemihypertrophy
* Prader- Willi syndrome

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37
Q

(Congenital iris ectropion)

Anomalies associées au Congenital iris ectropion syndrome?

A

Congenital iris ectropion syndrome is a constellation of unilateral
* Congenital iris ectropion
* A glassy- smooth cryptless iris surface
* A high iris insertion
* Dysgenesis of the drainage angle
* Glaucoma risk
* Often with ptosis.

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38
Q

(Dyscoria)

Définir la dyscorie

A

Dyscoria is an abnormal pupil shape, typically resulting from congenital malformation such as ARS.

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39
Q

(Congenital miosis)

Synonyme de Congenital miosis

A

Microcoria

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40
Q

(Congenital miosis)

Physiopathologie/Causes du Congenital miosis?

A
  • Congenital miosis (microcoria) may represent an absence or malformation of the dilator pupillae muscle.
  • It can also occur secondary to contracture of fibrous material on the pupil margin owing to remnants of the tunica vasculosa lentis or neural crest cell anomalies.
    À r/o : rubéole congénitale, ataxie héréditaire, syndrome de Lowe
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41
Q

(Congenital miosis)

Décrire la pupille dans la congenital miosis

A

The pupil :
* Rarely exceeds 2 mm in diameter
* Is often eccentric
* Reacts poorly to mydriatic drops.

Severe cases require surgical pupilloplasty.

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42
Q

(Congenital miosis)

Définir « Ectopia lentis et pupillae »

A

Ectopia lentis et pupillae refers to eccentric microcoria with lens subluxation, often from biallelic ADAMTSL4 mutations

43
Q

(Congenital miosis)

Mutation souvent associée au « ectopia lentis et pupillae »

A

Ectopia lentis et pupillae refers to eccentric microcoria with lens subluxation, often from biallelic ADAMTSL4 mutations

44
Q

(Congenital mydriasis)

Synonyme de Congenital mydriasis

A

Iridoplegia

45
Q

(Congenital mydriasis)

V ou F : Many cases of congenital mydriasis (iridoplegia) fall within the aniridia spectrum.

A

Vrai. Many cases of congenital mydriasis (iridoplegia) fall within the aniridia spectrum, especially if the central iris structures from the collarette to the pupillary sphincter are absent.

46
Q

(Congenital mydriasis)

Anomalies systémiques associées au congenital mydriasis?

A

Congenital cardiovascular defects may be associated with congenital mydriasis in patients with heterozygous ACTA2 mutation, which sometimes causes an alternate phenotype of prominent iris flocculi rather than iridoplegia.

47
Q

(Congenital mydriasis)

Mutation génétique associée au congenital mydriasis et aux congenital cardiovascular defects?

A

Congenital cardiovascular defects may be associated with congenital mydriasis in patients with heterozygous ACTA2 mutation, which sometimes causes an alternate phenotype of prominent iris flocculi rather than iridoplegia.

48
Q

(Congenital mydriasis)

Autres causes de congenital mydriasis (autre qu’Aniridie)?

A

Other causes include
* Iris sphincter trauma
* Pharmacologic mydriasis
* Acquired neurologic disease that affects parasympathetic innervation

49
Q

(Corectopia)

Localisation N de la pupille?
Définition de la corectopie?

A
  • Normally, the pupil is located approximately 0.5 mm inferonasally from the center of the iris.
  • Minor deviations of up to 1.0 mm are usually cosmetically insignificant and are not considered abnormal;
  • Displacement greater than 1.0 mm is considered corectopia
50
Q

(Corectopia)

Causes de corectopie :
* Diffuse iris hypoplasia?
* Colobomatous lesions?

A

Sector iris hypoplasia or other colobomatous lesions can lead to corectopia.

51
Q

(Corectopia)

V ou F : Vision can be good

A

Vrai. Vision can be good.

52
Q

(Corectopia)

A
53
Q

(Corectopia)

Concernant « Ectopia lentis et pupillae », lesquels sont faux?à
1. Ectopia lentis et pupillae is corectopia not associated with lens subluxation.
2. It is often due to biallelic ADAMTS4 mutations.
3. The pupils and lenses are displaced in the same direction.
4. The pupils may be very small and misshapen; they often dilate poorly

A

Réponse : 1 et 3 sont faux.

  • Ectopia lentis et pupillae is corectopia associated with lens subluxation.
  • It is often due to biallelic ADAMTS4 mutations.
  • The pupils and lenses are displaced in opposite directions.
  • The pupils may be very small and misshapen; they often dilate poorly

(misshapen = diforme)

54
Q

(Corectopia)

Maladies associées à une corectopie (x 2)?

A

Progressive corectopia can be associated with
* ARS
* In adults : iridocorneal endothelial (ICE) syndrome

55
Q

(Corectopia)

V ou F : Isolated noncolobomatous, autosomal dominant corectopia has been reported.

A

Vrai. Isolated noncolobomatous, autosomal dominant corectopia has been reported.

56
Q

(Polycoria and pseudopolycoria)

Prévalence d’une true polycoria?

A
  • True polycoria (in which each pupil has a sphincter mechanism) is very rare.
  • Most accessory iris openings are pseudopolycoria.
57
Q

(Polycoria and pseudopolycoria)

Causes de iris holes?

A

These iris holes :
* May be congenital
* May develop in response to progressive corectopia and iris hypoplasia in ARS or, in adults, in ICE syndrome.

Pseudopolycoria can also result from
* Trauma
* Surgery
* Persistent pupillary membranes

58
Q

Mégalocornée primaire versus secondaire?

A

Primaire
* Bilatérale
* Congénitale
* Augmentation D horizontal cornée
* CA profonde
* Transillumination iris
* X-linked recessive mutation (CHRDL1)
* Versus Buphtalmos : Enlarged Eyeball (au complet)

Secondaire
* Typiquement 2nd augmentation PIO

59
Q

Définition d’une microcornée (D en mm)?

A

Microcornea is characterized by a horizontal corneal diameter of
* 9 mm or less at birth
* Less than 10 mm after 2 years of age

It is often a component of
* Ocular malformations such as Microphthalmia et Persistent fetal vasculature
* Syndromes such as Oculodentodigital syndrome, Nance- Horan syndrome et Lenz syndrome

60
Q

Caractéristiques d’un kératoglobus?

A

Keratoglobus is characterized by
* A steep corneal curvature (forte courbure k)
* A peripheral corneal thinning
* A very deep anterior chamber

The phenotype can be due to brittle cornea syndrome, which is the result of biallelic mutations in ZNF469 or PRDM5.

Spontaneous breaks in Descemet membrane may produce acute corneal edema.

Because the cornea can be ruptured by minor blunt trauma, wearing protective spectacles full time is appropriate.

61
Q

Définir le kératocône?

A

Keratoconus is characterized by central or paracentral corneal bulging (renflement) and progressive thinning.

It may present and progress during adolescence and is often familial.

Keratoconus is more common in
* Down syndrome
* Atopic diseases
* Leber congenital amaurosis
* Chronic eye rubbing.

Iron lines (Fleischer rings), stress lines (Vogt striae), and apical scarring are often noted.

Tears in Descemet membrane can occur and cause acute corneal edema (hydrops).

62
Q

Onset du kératocône?

A

Keratoconus is characterized by central or paracentral corneal bulging (renflement) and progressive thinning.

It may present and progress during adolescence and is often familial.

Keratoconus is more common in
* Down syndrome
* Atopic diseases
* Leber congenital amaurosis
* Chronic eye rubbing.

Iron lines (Fleischer rings), stress lines (Vogt striae), and apical scarring are often noted.

Tears in Descemet membrane can occur and cause acute corneal edema (hydrops).

63
Q

Pathologies/conditions associées au kératocône?

A

Keratoconus is characterized by central or paracentral corneal bulging (renflement) and progressive thinning.

It may present and progress during adolescence and is often familial.

Keratoconus is more common in
* Down syndrome
* Atopic diseases
* Leber congenital amaurosis
* Chronic eye rubbing

Iron lines (Fleischer rings), stress lines (Vogt striae), and apical scarring are often noted.

Tears in Descemet membrane can occur and cause acute corneal edema (hydrops).

64
Q

Signes à l’E/O associés à un kératocône (x3)?

A

Keratoconus is characterized by central or paracentral corneal bulging (renflement) and progressive thinning.

It may present and progress during adolescence and is often familial.

Keratoconus is more common in
* Down syndrome
* Atopic diseases
* Leber congenital amaurosis
* Chronic eye rubbing.

Iron lines (Fleischer rings), stress lines (Vogt striae), and apical scarring are often noted.

Tears in Descemet membrane can occur and cause acute corneal edema (hydrops).

65
Q

(Posterior embryotoxon)

Définir le Posterior embryotoxon?

A

Posterior embryotoxon (prominent Schwalbe line) represents a thickening and anterior displacement of the Schwalbe line, causing the anomaly to be seen as an irregular white line just concentric with and anterior to the limbus

It is a common isolated finding (occurring in 15% of healthy patients) but is often seen in
* Axenfeld- Rieger syndrome
* Arteriohepatic dysplasia (Alagille syndrome)
* Velocardiofacial syndrome (22q11 deletion syndrome).

66
Q

(Posterior embryotoxon)

Pathologies/Conditions associées à un Posterior embryotoxon?

A

Posterior embryotoxon (prominent Schwalbe line) represents a thickening and anterior displacement of the Schwalbe line, causing the anomaly to be seen as an irregular white line just concentric with and anterior to the limbus

It is a common isolated finding (occurring in 15% of healthy patients) but is often seen in
* Axenfeld- Rieger syndrome
* Arteriohepatic dysplasia (Alagille syndrome)
* Velocardiofacial syndrome (22q11 deletion syndrome).

67
Q

(Posterior embryotoxon)

% de healthy patient avec un posterior embryotoxon?

A

Posterior embryotoxon (prominent Schwalbe line) represents a thickening and anterior displacement of the Schwalbe line, causing the anomaly to be seen as an irregular white line just concentric with and anterior to the limbus

It is a common isolated finding (occurring in 15% of healthy patients) but is often seen in
* Axenfeld- Rieger syndrome
* Arteriohepatic dysplasia (Alagille syndrome)
* Velocardiofacial syndrome (22q11 deletion syndrome).

68
Q

Définir le Cornea plana?

A

Cornea plana is a pathognomonic phenotype of flat cornea
* Indistinct limbus
* Shallow anterior chamber
* Hyperopia
* Associated accommodative esotropia

It is specific for biallelic KERA mutations.

Refractive correction and monitoring for glaucoma, which may develop later in life, are the mainstays of treatment.

69
Q

Définir l’epibulbar dermoid?

A

An epibulbar (limbal) dermoid is a choristoma composed of fibrofatty tissue covered by keratinized epithelium; it may contain hair follicles, sebaceous glands, or sweat glands.

70
Q

Localisation typique de l’epibulbar dermoid?

A

The dermoid often straddles the limbus (typically inferotemporally) or, less frequently, resides more centrally in the cornea.

71
Q

Dimensions en général d’un epibulbar dermoid?

A

It is typically less than 10 mm in diameter, with minimal postnatal growth.

72
Q

Pathologie associée à un epibulbar dermoid?

A

Epibulbar dermoids may be seen in Goldenhar syndrome

Patients with Goldenhar syndrome may have one or more of a variety of anomalies, including
* Ear deformities or periauricular tags
* Maxillary or mandibular hypoplasia
* Vertebral deformities
* Eyelid colobomas
* Duane retraction syndrome

73
Q

V ou F : un epibulbar dermoid peut occasionner de l’amblyopie.

A

Vrai. Epibulbar dermoids can produce astigmatism with secondary anisometropic amblyopia.

Surgical excision may be indicated if they cause ocular irritation or amblyopia, but the procedure may result in scarring and astigmatism, which can also lead to amblyopia.

74
Q

Définir le dermolipoma?

A

A dermolipoma is an epibulbar choristoma composed of adipose and dense connective tissue.

Often, dermal tissue, including hairs, has replaced a portion of the overlying conjunctiva.

Dermolipomas can be extensive, involving orbital tissue, the lacrimal gland, extraocular muscle, or a combination of these.

Like limbal dermoids, dermolipomas can be associated with Goldenhar syndrome.

Dermolipomas rarely require excision.

75
Q

Pathologie associée au dermolipoma?

A

A dermolipoma is an epibulbar choristoma composed of adipose and dense connective tissue.

Often, dermal tissue, including hairs, has replaced a portion of the overlying conjunctiva.

Dermolipomas can be extensive, involving orbital tissue, the lacrimal gland, extraocular muscle, or a combination of these.

Like limbal dermoids, dermolipomas can be associated with Goldenhar syndrome.

Dermolipomas rarely require excision.

76
Q

V ou F : Les dermolipomas sont très peu extensifs.

A

Faux. Dermolipomas can be extensive, involving orbital tissue, the lacrimal gland, extraocular muscle, or a combination of these.

77
Q

Ddx d’un Infantile Corneal Opacity

A

STUMPED :
* Sclerocornea
* Tears in Descemet membrane (usually owing to forceps trauma or congenital glaucoma)
* Ulcers (infection)
* Metabolic disorders (eg, mucopolysaccharidosis)
* Peters anomaly
* Edema (eg, congenital hereditary endothelial dystrophy [CHED], posterior polymorphous corneal dystrophy [PPCD], congenital hereditary stromal dystrophy [CHSD], glaucoma)
* Dermoid

78
Q

(Congenital iris ectropion)

Définir le ectropion uveae?

A

Ectropion of the posterior pigment epithelium onto the anterior surface of the iris is sometimes termed ectropion uveae, but this is a misnomer because posterior iris epithelium is derived from neural ectoderm and is not considered part of the uvea.

79
Q

(Congenital iris ectropion)

Causes de congenital iris ectropion?

A

Congenital iris ectropion can occur as an acquired tractional abnormality, often associated with rubeosis iridis, or as a congenital nonprogressive abnormality, which can be associated with later glaucoma.

It may occur in patients with
* Neurofibromatosis
* Facial hemihypertrophy
* Prader- Willi syndrome

80
Q

(Congenital iris ectropion)

Qu’est-ce que le Congenital iris ectropion syndrome ?

A

Congenital iris ectropion syndrome is a constellation of unilateral congenital
* Iris ectropion
* A glassy- smooth cryptless iris surface
* A high iris insertion
* Dysgenesis of the drainage angle
* Glaucoma risk
* Often with ptosis.

81
Q

Définition Dyscoria?

A

Dyscoria is an abnormal pupil shape, typically resulting from congenital malformation such as ARS

82
Q

Définir le Congenital miosis (microcoria)?

A
  • Congenital miosis (microcoria) may represent an absence or malformation of the dilator pupillae muscle.
  • It can also occur secondary to contracture of fibrous material on the pupil margin owing to remnants of the tunica vasculosa lentis or neural crest cell anomalies.
  • The pupil rarely exceeds 2 mm in diameter, is often eccentric, and reacts poorly to mydriatic drops.
  • Severe cases require surgical pupilloplasty.
  • « Ectopia lentis et pupillae » refers to eccentric microcoria with lens subluxation, often from biallelic ADAMTSL4 mutations.
83
Q

V ou F : Many cases of congenital mydriasis fall within the aniridia spectrum.

Atteinte systémique quipeut être associée au congenital mydriasis?

A

Many cases of congenital mydriasis (iridoplegia) fall within the aniridia spectrum, especially if the central iris structures from the collarette to the pupillary sphincter are absent.

Congenital cardiovascular defects may be associated with congenital mydriasis in patients with heterozygous ACTA2 mutation, which sometimes causes an alternate phenotype of prominent iris flocculi rather than iridoplegia.

Other causes include
* Iris sphincter trauma
* Pharmacologic mydriasis
* Acquired neurologic disease that affects parasympathetic innervation

84
Q

(Corectopie)

Déplacement/Positionnement « normal » de l’iris?

A

Normally, the pupil is located approximately 0.5 mm inferonasally from the center of the iris.

85
Q

Définition de la corectopie/À partir de combien de déplacement en mm peut-on dire qu’il s’agit d’une correctopie?

A

Minor deviations of up to 1.0 mm are usually cosmetically insignificant and are not considered abnormal; displacement greater than this is considered corectopia.

Displacement > 1 mm

86
Q

Définir l’ectopia lentis et pupillae?
Mutation génétique associée?
Axes des déplacements ?

A
  • Ectopia lentis et pupillae is corectopia associated with lens subluxation.
  • It is often due to biallelic ADAMTS4 mutations.
  • The pupils and lenses are displaced in opposite directions.
  • The pupils may be very small and misshapen; they often dilate poorly
87
Q

V ou F : True polycoria are very frequent

A
  • True polycoria (in which each pupil has a sphincter mechanism) is very rare.
  • Most accessory iris openings are pseudopolycoria.
  • These iris holes may be congenital or may develop in response to progressive corectopia and iris hypoplasia in ARSor, in adults, in ICE syndrome.
  • Pseudopolycoria can also result from trauma, surgery, or persistent pupillary membranes.
88
Q

Causes de pseudopolycoria?

A
  • True polycoria (in which each pupil has a sphincter mechanism) is very rare.
  • Most accessory iris openings are pseudopolycoria.
  • These iris holes may be congenital or may develop in response to progressive corectopia and iris hypoplasia in ARS or, in adults, in ICE syndrome.
  • Pseudopolycoria can also result from trauma, surgery, or persistent pupillary membranes.

Donc : Ddx Pseudopolycorie
* Trauma
* Axenfeld Reiger
* ICE syndrome
* Chx
* PPM

89
Q

(Thygeson superficial punctate keratitis)

Étiologie du Thygeson superficial punctate keratitis?

A
  • The etiology of Thygeson superficial punctate keratitis is unclear, but it is thought to be immune- mediated.
  • It can occur in children and presents with tearing, photophobia, and reduced vision.
  • The condition is bilateral but often asymmetric.
  • Characteristic features include slightly elevated gray corneal epithelial lesions with negative staining.
  • It is treated with mild corticosteroids (eg, fluorometholone 0.1%) or topical cyclosporine 0.05%.
90
Q

(Thygeson superficial punctate keratitis)

Présentation clinique?

A
  • The etiology of Thygeson superficial punctate keratitis is unclear, but it is thought to be immune- mediated.
  • It can occur in children and presents with tearing, photophobia, and reduced vision.
  • The condition is bilateral but often asymmetric.
  • Characteristic features include slightly elevated gray corneal epithelial lesions with negative staining.
  • It is treated with mild corticosteroids (eg, fluorometholone 0.1%) or topical cyclosporine 0.05%.
91
Q

(Thygeson superficial punctate keratitis)

Characteristic features à l’E/O

A
  • The etiology of Thygeson superficial punctate keratitis is unclear, but it is thought to be immune- mediated.
  • It can occur in children and presents with tearing, photophobia, and reduced vision.
  • The condition is bilateral but often asymmetric.
  • Characteristic features include slightly elevated gray corneal epithelial lesions with negative staining.
  • It is treated with mild corticosteroids (eg, fluorometholone 0.1%) or topical cyclosporine 0.05%.
92
Q

(Thygeson superficial punctate keratitis)

Tx?

A
  • The etiology of Thygeson superficial punctate keratitis is unclear, but it is thought to be immune- mediated.
  • It can occur in children and presents with tearing, photophobia, and reduced vision.
  • The condition is bilateral but often asymmetric.
  • Characteristic features include slightly elevated gray corneal epithelial lesions with negative staining.
  • It is treated with mild corticosteroids (eg, fluorometholone 0.1%) or topical cyclosporine 0.05%.
93
Q

(Wilson Disease)

Laboratory tests for Wilson Disease (x2) ?

A

Laboratory tests for serum copper and ceruloplasmin are better than an eye examination for early diagnosis because the ring can develop late.

94
Q

(Fabry disease)

Type de transmission génétique associé au Fabry disease?

A
  • Fabry disease is an X- linked lysosomal storage disease with variable systemic manifestations.
  • It is due to alpha - galactosidase deficiency (hemizygous GLA mutations).
  • Vortex keratopathy (verticillata) can be seen in affected males and in female carriers.
95
Q

(Schnyder corneal dystrophy)

Définir le Schnyder corneal dystrophy?

A
  • Schnyder corneal dystrophy is a predominantly local disorder of corneal lipid metabolism arising from biallelic UBIAD1 mutations.
  • Although crystalline keratopathy is characteristic, stromal haze without crystals is a common presentation.
96
Q

(Juvenile xanthogranuloma)

Définir le Juvenile xanthogranuloma?
Cellules « pathognomoniques » présentes à la pathologie?

A

Juvenile xanthogranuloma is a nonneoplastic histiocytic proliferation that develops in infants younger than 2 years.

(prolifération histiocytaire non néoplasique)

Rare benign histiocytic proliferation that develops in infants and young children.

It is characterized by the presence of Touton giant cells.

97
Q

(Juvenile xanthogranuloma)

À quoi ressemble l’atteinte cutanée?
À quoi ressemble l’atteinte a/n de l’iris?

A
  • Skin involvement— consisting of one or more small, round, orange or tan papules—is typically but not always present.
  • Iris lesions are relatively rare and virtually always unilateral.
  • The fleshy, yellow- brown masses may be small and localized or may diffusely infiltrate the entire iris, resulting in heterochromia.
  • Those at greatest risk for ocular involvement are children with multiple skin lesions.
98
Q

(Juvenile xanthogranuloma)

Complications oculaires associées au Juvenile xanthogranuloma de l’iris?

A
  • Spontaneous bleeding with hyphema is a characteristic clinical presentation.
  • Secondary glaucoma may cause acute pain, photophobia, and vision loss.
99
Q

(Juvenile xanthogranuloma)

Évolution naturelle d’un Juvenile xanthogranuloma?

A
  • Juvenile xanthogranuloma is a self- limited condition that usually regresses spontaneously by age 5 years, but to avoid complications, treatment is indicated for ocular involvement.
  • Topical corticosteroids and pharmacologic agents to lower intraocular pressure, given as necessary, are generally sufficient to control the problem.
  • Surgical excision or radiation should be considered if intractable (intraitable) glaucoma is present.
100
Q

(Juvenile xanthogranuloma)

Tx du Juvenile xanthogranuloma?

A
  • Juvenile xanthogranuloma is a self- limited condition that usually regresses spontaneously by age 5 years, but to avoid complications, treatment is indicated for ocular involvement.
  • Topical corticosteroids and pharmacologic agents to lower intraocular pressure, given as necessary, are generally sufficient to control the problem.
  • Surgical excision or radiation should be considered if intractable (intraitable) glaucoma is present.
101
Q

Définir les Iris mammillations?

A
  • Iris mammillations may be unilateral or bilateral.
  • They appear as numerous tiny, diffuse, pigmented nodules on the surface of the iris.
  • They are more common in darkly pigmented eyes and are usually the same color as the iris.
  • They must be differentiated from Lisch nodules; mammillations are usually dark brown, smooth, uniformly distributed, and equal in size or slightly larger near the pupil.
  • The incidence of iris mammillations is higher among patients with neurofibromatosis type 1.
102
Q

Brushfield spots versus Wolfflin nodules? Définition?

A

Focal areas of iris stromal hyperplasia surrounded by relative hypoplasia occur in up to 90% of patients with Down syndrome; in such patients, these areas are known as Brushfield spots. They are hypopigmented.

Similar lesions, known as Wolfflin nodules, occur in up to 24% of healthy individuals.

Neither condition is visually significant.

103
Q

Qu’est-ce qu’un medulloepithelioma?

A
  • A medulloepithelioma (diktyoma) originates from the nonpigmented epithelium of the ciliary body and most often presents as an iris mass during the first decade of life.
  • Secondary glaucoma, hyphema, and ectopia lentis et pupillae or sectoral cataract (Fig 21-21) are less frequent initial manifestations.
  • This rare lesion shows a spectrum of clinical and pathologic characteristics, ranging from benign to malignant.
  • Although distant metastasis is rare, local invasion can lead to death.
  • Teratoid elements are often present.
  • Enucleation is usually required and is curative in most cases.
104
Q

Ddx hétérochromie de l’iris pédiatrique

A

Pédiatrie (17 decks)

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