作者：Nikki Brodbeck 10 年以前
854
Aniridia
Aniridia is a rare congenital eye condition affecting approximately 1 in 60,000 people in the United States, with no gender or racial preference. It is usually diagnosed during infancy and is caused by mutations in the PAX6 gene, and sometimes by mutations in AN1 and AN2 genes or chromosomal deletions.
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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
