The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients

CONCLUSIONS: A single mtDNA point mutation at locus 3243 can result in a variety of clinical presentations (MELAS, MIDD, or CPEO). Ocular involvement may manifest as a perimacular/peripapillary RPE atrophy/deposit, which can variably impact central visual function (from asymptomatic to legal blindness). The discovery of such a maculopathy should prompt the ophthalmologist to complete the personal and family history, namely, asking for the presence of diabetes mellitus and/or deafness.PMID:33930928 | DOI:10.1055/a-1386-5826
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Authors: Source Type: research