Indian Journal of Clinical and Experimental Ophthalmology

Print ISSN: 2395-1443

Online ISSN: 2395-1451

CODEN : IJCEKF

Indian Journal of Clinical and Experimental Ophthalmology (IJCEO) is open access, a peer-reviewed medical journal, published quarterly, online, and in print, by the  Innovative Education and Scientific Research Foundation (IESRF) since 2015. To fulfill our aim of rapid dissemination of knowledge, we publish articles ‘Ahead of Print’ on acceptance. In addition, the journal allows free more...


Article type

Case Report


Article page

168-170


Authors Details

Vijay Sardana, Pallav Jain*


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G15043A mutation in a case of autosomal recessive optic atrophy. Causative or incidental?


Case Report

Author Details : Vijay Sardana, Pallav Jain*

Volume : 7, Issue : 1, Year : 2021

Article Page : 168-170

https://doi.org/10.18231/j.ijceo.2021.034



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Abstract

Autosomal recessive inheritance pattern in a case of hereditary optic atrophy is uncommon. Patients with recessive optic atrophy without involvement of any other system are rare. There is no causative gene or genetic mutation associated with it. Here we report a case of a 16-year-old girl which was diagnosed to be a case of AROA. Genetic analysis done in this patient revealed G15043A mutation. Identification of similar cases of the AROA can increase our understanding of the disorder and formulate treatment options.

Keywords: Autosomal recessive optic atrophy, Hereditary optic atrophy, G15043A mutation.


How to cite : Sardana V , Jain P , G15043A mutation in a case of autosomal recessive optic atrophy. Causative or incidental?. Indian J Clin Exp Ophthalmol 2021;7(1):168-170

Copyright © 2021 by author(s) and Indian J Clin Exp Ophthalmol. This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License (creativecommons.org)