A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.

Background: Leber congenital amaurosis (LCA) is a subgroup of early onset retinal dystrophy, manifesting with early or congenital visual loss, wandering nystagmus, amaurotic pupils, oculodigital sign, reduced retinal thickness on optical coherence tomography and abnormal electroretinogram. Today, mutations of about 25 genes account for 80% of individuals with LCA. The AIPL1 mutations causing LCA type 4 account for about 5-10% of this group. Case Report: Three affected siblings with vision loss, nystagmus, cataracts, stage 4 keratoconus, retinal abnormalities (black spots), lack of glaucoma, and dysmorphic features from a consanguineous marriage had LCA type 4 with a novel homozygous missense mutations of AIPL1(c.862 C > T). Conclusion: Cortical cataracts, stage 4 keratoconus, retinal black spots, and lack of glaucoma along with mutations of AIPL1 (c.862 C > T) can be present in LCA type 4.

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