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Familial aniridia with preserved ocular function

F J Elsas, I H Maumenee, K R Kenyon

    American Journal of Ophthalmology
    |May 1, 1977
    PubMed
    Summary
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    Familial aniridia patients often have good vision, with 61% achieving 20/30 or better. This suggests iris absence alone doesn't cause severe vision loss in aniridia.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Pediatric eye diseases

    Background:

    • Familial aniridia is a genetic disorder characterized by the absence of the iris.
    • Previous studies suggest severe visual impairment is common in aniridia patients.

    Observation:

    • This study examined a large pedigree with familial aniridia.
    • Visual acuity, and the prevalence of cataracts, glaucoma, strabismus, and amblyopia were assessed in affected individuals.

    Findings:

    • 61% of affected patients had visual acuity of 20/30 or better; only 5% had acuity of 20/200 or worse.
    • Cataracts (18%), glaucoma (13%), and strabismus (34%) were observed.
    • Strabismic amblyopia affected 16% of patients; no nystagmus or corneal pannus was noted.

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    Implications:

    • The relatively good visual acuity in this cohort indicates that iris absence alone may not fully explain the severe visual deficits typically seen in aniridia.
    • Further research is needed to identify other factors contributing to visual impairment in familial aniridia.