It is a pan-ocular disorder with macular and optic nerve hypoplasia, cataract and corneal changes, and anomalies that lead to decreased vision and nystagmus.
INHERITANCE PATTERN
AD – 2/3rd cases – no systemic implications – PAX-6 gene on chromosome 11p13
Sporadic – if sporadic, refer to a renal physician to rule out Wilms tumor.
Autosomal Recessive congenital Aniridia (Gillespie Syndrome) – cerebellar Ataxia and intellectual disability
VISUAL ACUITY
VA is generally low, 20/100 - 20/200
Photophobia
Extraocular motility
Nystagmus
Strabismus
EYELIDS AND ADNEXA
Bilateral Ptosis – 10%
CORNEA
AAK – Aniridia-associated keratopathy – limbal stem cell deficiency– begins with thickening and vascularization of the peripheral cornea, which gradually advances in the central cornea, ending in pan-corneal vascularization, opacification, and keratinization. CCT is usually increased.
Microcornea
Sclerocornea
Limbal dermoid
Arcus Juvenilis
SCLERA
IRIS AND PUPIL
Iris Hypoplasia or total absence of iris
Persistent pupillary membrane
Eccentric or misshapen pupils, partial iris defects, and iris ectropion
In mild cases – iris transillumination
LENS
Lenticular opacities, especially anterior polar - 50-85%
Keratolenticualr adhesions
Ectopia Lentis – 50% - often occurs in the setting of glaucoma and Buphthalmos
Completely dislocated lens
VITREOUS
POSTERIOR SEGMENT
Macular hypopigmentation and Foveal hypoplasia – 75%
Optic disc hypoplasia – 10%
Optic nerve coloboma
Choroidal coloboma
Glaucomatous cupping
IOP
Glaucoma – angle closure glaucoma – 30-50%
GONIOSCOPY
Shows the presence of iris root
The trabecular meshwork may be wholly or partially covered by the iris stump.
FELLOW EYE
Bilateral condition
SYSTEMIC CONDITIONS
Albinism
Hearing deficits
WAGR Syndrome –
W – Wilms tumor
A - Aniridia
G – Genitourinary anomalies
R – mental Retardation
Assess family members for Aniridia.
Ancillary testing –
UBM
OCT ONHVF
Glare testing
pachymetry
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