Mitochondrial retinal dystrophy associated with the (m.3243A>G) mutation

Camiel J. F. Boon, Pascale Massin

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Abstract

Mitochondrial retinal dystrophy (MRD) is a maternally inherited, progressive retinal dystrophy caused by a mitochondrial mutation. MRD can be classified into four disease grades and is associated with systemic abnormalities such as maternally inherited diabetes and deafness, and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. The fovea tends to be spared in MRD, with a relatively preserved visual acuity.
Original languageEnglish
Title of host publicationMacular Dystrophies
PublisherSpringer International Publishing
Pages63-70
ISBN (Electronic)9783319266213
ISBN (Print)9783319266190
DOIs
Publication statusPublished - 1 Jan 2016
Externally publishedYes

Publication series

NameMacular Dystrophies

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