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Article

Retinal Degeneration Associated With the G1606A Mitochondrial Mutation.

Ophthalmic surgery, lasers & imaging retina - 1 Feb 2022

Mansour Hana A, Chacko Joseph A, Sanders Riley N, Schaefer Gerald B, Uwaydat Sami H

Abstract excerpt

The guanine-to-adenine substitution at nucleotide 1606 (G1606A) mutation in the mitochondrial DNA transfer RNA-valine gene has been reported to cause sensorineural deafness, ataxia, myoclonus, seizures, and mental retardation. This study hereby presents a single case report of a new retinal phenotype associated with this mutation: a middle-aged woman with retinal pigment epithelium stippling, atrophy, and...

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Source

Identifiers

PMID: 35148219
DOI: 10.3928/23258160-20220121-04

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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