---

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

Suggest article by email

Get Permission

---

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

This is an Open Access (OA) journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.