Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population.

ABSTRACT:

Purpose

Leber's hereditary optic neuropathy (LHON) is an inherited optic neuropathy characterized by subacute painless vision loss. The majority of LHON is caused due to one of the three primary mutations in the mitochondrial DNA (m.G3460A, m.G11778A, and m.T14484C). The frequency of these mutations differs in different populations. The purpose of this study is to observe the frequency of three common primary mutations in the North Indian population.

Methods

Forty LHON patients within the age group of 10-50 years underwent molecular testing for primary mutations. For two patients, testing for mother and other siblings was also carried out, using bidirectional sequencing.

Results

A total of 11 out of 40 (27.5%) patients were found to be carrying m.G11778A mutation. Sib

SUBMITTER: Mishra A 

PROVIDER: S-EPMC5700584 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature