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

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.