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

Abstract

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 Ballinger-Wallace disease.

DISCUSSION:

The finding of such macular disorders, especially in the presence of diabetes mellitus and deafness, should suggest the performing of a mitochondrial genome screening to identify this unusual syndrome.

• Authors: V Sánchez-Gutiérrez, J García-Montesinos, A Pardo-Muñoz
• Journal: Archivos de la Sociedad Espanola de Oftalmologia (Arch Soc Esp Oftalmol) Vol. 91 Issue 5 Pg. 240-4 (May 2016) ISSN: 1989-7286 [Electronic] Spain
• Vernacular Title: Dos hermanas con distrofia macular causada por la mutación 3243A>G del ADN mitocondrial.
• PMID: 26897329 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

Chemical References

• DNA, Mitochondrial

Topics

• DNA, Mitochondrial (genetics)
• Female
• Humans
• Macular Degeneration (diagnosis, genetics)
• Middle Aged
• Mutation