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

Archivos de la Sociedad Española de Oftalmología
V Sánchez-GutiérrezA Pardo-Muñoz

Abstract

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. 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.

References


❮ Previous
Next ❯

Citations

Jul 8, 2021·Journal français d'ophtalmologie·I Zhioua BrahamR Zhioua

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine
Toyoko HirayamaHiroyuki Matsumoto
Acta otorrinolaringológica española
Eduardo MasedaJosé Ricardo Alonso
Diabetes & Metabolism
C AmbonvilleP J Guillausseau
© 2022 Meta ULC. All rights reserved