Aniridia

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DOWN SYNDROME

Ved aileen Galindo

Aniridia

Treatment

Treatment for strabismus

Botox

Prisms

Surgery

Vision therapy

Treatment for photophobia/nystagmus

Tinted IOLs (intraocular lenses)

Tinted glasses

Tinted/iris contacts

Treatment for poor visual acuity

Low vision aids

Contacts

Glasses

Cataract surgery

Treatment for glaucoma

Cyclocryotherapy

Laser therapy

Goniotomy

Trabeculectomy

Prostaglandin analogues

Carbonic anhydrase inhibitors

Sympathomimetics

Beta-blockers

Miotics

Example Case

Symptoms related to aniridia

Microopthalmus

Strabismus (Esotropia)

Case History

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

Mother has glaucoma and vision issues

Has twin sister

Born via C-section 1 month prematurely

Healthy, no meds., no allergies

Basic Info

MRN: 91036918

6 y.o. black female

Research

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

Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

Differential Diagnoses

Gillespie syndrome

Congenital nystagmus

Juvenile gluacoma

Congenital cataracts

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

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

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

Causes

Mutations of AN1 and AN2 genes

Chromosomal deletion of p13 on chromosome 11

Mutation in PAX6 gene

Photos

Presentation

Other possible associated conditions

Gillespie Syndrome

WAGR syndrome

Mental retardation

Genitourinary anomolies

Wilms tumor

Microcornea

Arcus juvenilis

Spontaneous lens dislocation

Ectopia lentis

Keratoconus

Albinism

Strabismus

Optic nerve hypoplasia

Nystagmus

Foveal hypoplasia

Glaucoma

Cataracts

Photophobia

Reduced visual acuity (20/200 or less)

Abnormal pupils

Complete or partial absence of the iris

Epidemiology

Equal in males and females

Diagnosis typically made at infant stage

Easier to diagnose at early stages in Caucasians

Cataracts may develop before 13 years of age

Glaucoma diagnosed between ages 11-20

No racial predisposition exists

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