Aniridia

1 in 60,000 people have this condition in the US

No racial predisposition exists

Diagnosis typically made at infant stage

Glaucoma diagnosed between ages 11-20

Cataracts may develop before 13 years of age

Easier to diagnose at early stages in Caucasians

Equal in males and females

Complete or partial absence of the iris

Abnormal pupils

Reduced visual acuity (20/200 or less)

Photophobia

Other possible associated conditions

Cataracts

Glaucoma

Foveal hypoplasia

Nystagmus

Optic nerve hypoplasia

Strabismus

Albinism

Keratoconus

Ectopia lentis

Spontaneous lens dislocation

Arcus juvenilis

Microcornea

WAGR syndrome

Wilms tumor

Aniridia

Genitourinary anomolies

Mental retardation

Gillespie Syndrome

Mutation in PAX6 gene

Chromosomal deletion of p13 on chromosome 11

Mutations of AN1 and AN2 genes

Genetic testing for deletions/mutations in chromosomes and genes specific to the condition

Fluorescent in situ hybridization (FISH) used to detect deletions in Wilm tumor genes

Renal ultrasounds to detect tumors and anomalies of the kidneys indicative of WAGR syndrome

Congenital cataracts

Juvenile gluacoma

Ectopia lentis

Congenital nystagmus

Gillespie syndrome

Postnatal manipulation of Pax6 dosage
reverses congenital tissue malformation defects

Recurrent progressive anterior
segment fibrosis syndrome following
a descemet‑stripping endothelial
keratoplasty in an infant with
congenital aniridia

Basic Info

6 y.o. black female

MRN: 91036918

Case History

Healthy, no meds., no allergies

Born via C-section 1 month prematurely

Has twin sister

Mother has glaucoma and vision issues

2nd degree burn on face from iron at 1 y.o.

Symptoms related to aniridia

Strabismus (Esotropia)

Nystagmus

Microopthalmus

Microcornea

Cataracts

Foveal hypoplasia

Treatment for glaucoma

Miotics

Beta-blockers

Sympathomimetics

Carbonic anhydrase inhibitors

Prostaglandin analogues

Trabeculectomy

Goniotomy

Laser therapy

Cyclocryotherapy

Cataract surgery

Treatment for poor visual acuity

Glasses

Contacts

Low vision aids

Treatment for photophobia/nystagmus

Tinted/iris contacts

Tinted glasses

Tinted IOLs (intraocular lenses)

Treatment for strabismus

Vision therapy

Surgery

Prisms

Botox