Abstract

  Leber congenital amaurosis is a rare inherited retinopathy resulting in severe vision loss at an early age. We present a family wherein leber congenital amaurosis was clinically misdiagnosed as retinitis pigmentosa in a pregnant women with a clinically documented family history of retinal dystrophy. Clinical exome study in the proband identified a nonsense variant (c.834 G>A / p.W278X) in the AIPL1 gene. A prenatal study from the chorionic villus found the foetus to be heterozygous for the identified variant, confirming the carrier status. This study highlights the utility of advanced genomic diagnosis for the phenotypically overlapping ophthalmic disorders.

Keywords: Leber Congenital Amaurosis; Genetics; Retinitis Pigmentosa; Prenatal Diagnosis

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Citation

Citation: Sheth Jayesh J., et al. “Identification of a Nonsense Mutation in AIPL1 Gene Causing Leber Congenital Amaurosis in a Family Clinically Diagnosed as Retinitis Pigmentosa". Acta Scientific Paediatrics 3.12 (2020): 08-10.

Copyright

Copyright: © 2020 Sheth Jayesh J., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.