Acta Scientific Ophthalmology (ISSN: 2582-3191)

Case Report Volume 3 Issue 12

Identification of a Nonsense Mutation in AIPL1 Gene Causing Leber Congenital Amaurosis in a Family Clinically Diagnosed as Retinitis Pigmentosa

Sheth Jayesh J1*, Shah Jay S1, Gandhi Ajit2 and Patel Chandni1

1FRIGE’s Institute of Human Genetics, Ahmedabad, Gujarat, India
2Unique Hospital, Solapur, Maharashtra, India

*Corresponding Author: Sheth Jayesh J, FRIGE’s Institute of Human Genetics, Ahmedabad, Gujarat, India.

Received: October 02, 2020; Published: December 14, 2020



  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: 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 4.1 (2021): 09-15.


Acceptance rate35%
Acceptance to publication20-30 days
ISI- IF1.042
JCR- IF0.24

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