Rare Diseases Symptoms Automatic Extraction

Aniridia: a comparative overview.

[aniridia]

Aniridia is linked to a mutation of the PAX6 gene, which results in panocular anomalies. A set of common secondary pathologies associated with aniridia is recognized. Much of the literature on aniridia focuses on genetic factors of the disorder and associated abnormalities, both ocular and nonocular. The field of research on the prevalence of pathology secondary to ocular abnormalities associated with aniridia is limited, with many of the studies based on low patient numbers. This study contributes patient data on the prevalence and significance of ocular pathology in aniridia.We conducted a retrospective chart review of patients with aniridia treated at the Vanderbilt Eye Institute between July 1, 2011, and July 1, 2012. We compiled data on visual acuities and ocular pathologies, comparing our results with previous studies.The percentage of patients in our study with nystagmus and cataract was within the range reported among several studies. However, the rate of glaucoma and corneal disease among our adult study patients was higher. Despite being a prominent feature of aniridia, retinal pathology is difficult to quantify; data on retinal pathology is scarce in the literature and difficult to obtain through a retrospective chart review due to the multiple factors impacting the retina in aniridia.In addition to the challenges posed by ocular anomalies that occur in anirida, the progressive nature of processes common in the condition have significant implications for long-term visual outcomes.

Diseases presenting "mutation of the pax6 gene" symptom

  • aniridia

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