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P. Luke, D. H. Kauffmann Jokl; Genetic Heterogeneity in Aniridia. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2312.
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We present the initial results of a case study supporting evidence for genetic heterogeneity in aniridia.
A 5-day old male born to blind parents via NSVD was admitted to the NICU for ABO Incompatibility and found to have aniridia, congenital cataracts, and retinal hemorrhages in both eyes on dilated fundus exam. Genetic history and analysis were obtained. OCT findings will be reported separately.
Family history revealed that the mother, of Guatemalan descent, had congenital cataracts, aniridia, horizontal nystagmus, and neovascular glaucoma in both eyes. The father, born in Belize, had congenital glaucoma and horizontal nystagmus in both eyes. A maternal grandmother with congenital cataracts. Genetic study including FISH analysis of the PAX6 locus at 11p13 (RP1-74J1) showed normal hybridization pattern and no identifiable deletion in the 11p13 region. Aniridia is caused by loss of function of one copy of the PAX6 gene located on chromosome 11p13. Most patients with aniridia have intragenic mutations and a proportion include submicroscopic deletions of the nearby WT1gene accounting for the presence of Wilms tumor.
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