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Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation.

Archivos de la Sociedad Espanola de Oftalmologia - 1 May 2016

Sánchez-Gutiérrez V, García-Montesinos J, Pardo-Muñoz A

Abstract excerpt

CASE REPORT: Two sisters of 54 and 60years old, with a history of diabetes and deafness, consulted for decreased visual acuity (VA). Funduscopic examination revealed patchy areas of chorioretinal atrophy with annular arrangement around the fovea. Genetic study identified the heteroplasmic mutation 3243A>G in mitochondrial DNA, which supports syndrome maternally inherited diabetes and deafness (MIDD) or...

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PMID: 26897329
DOI: 10.1016/j.oftal.2016.01.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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