Das Spektrum der Makulopathie bei mitochondrialer DNA-A3243G-Mutation: eine Fallserie von 6 Patienten [The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients]

Details

Serval ID
serval:BIB_574C3EC9D94C
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Das Spektrum der Makulopathie bei mitochondrialer DNA-A3243G-Mutation: eine Fallserie von 6 Patienten [The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients]
Journal
Klinische Monatsblatter fur Augenheilkunde
Author(s)
Kaisari E., Borruat F.X.
ISSN
1439-3999 (Electronic)
ISSN-L
0023-2165
Publication state
Published
Issued date
04/2021
Peer-reviewed
Oui
Volume
238
Number
4
Pages
414-417
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
The mitochondrial DNA (mtDNA) A3243G point mutation encompasses a heterogenous group of disorders including mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), and, rarely, chronic progressive external ophthalmoplegia (CPEO). Regardless of the clinical phenotype, a specific retinopathy has been associated with the presence of this mitochondrial DNA mutation. We present six female patients exhibiting retinopathy of the A3243G point mutation at various stages.
Six female patients (37 - 70 years old) with the A3243G point mutation (four MELAS, one MIDD, and one CPEO) exhibited a maculopathy. Visual acuity ranged from 1/60 to 10/10. Visual field abnormalities varied from minimal decreased sensitivity to absolute central scotomas. They all exhibited, at various degrees, a characteristic pattern of perimacular and peripapillary retinal pigment epithelium (RPE) alterations, with mottled dys-autofluorescence and RPE atrophy and deposits on OCT.
The level of visual impairment depended on the foveal involvement and the extension of RPE atrophy. The severity of the maculopathy was not related to age. In the only long-term follow-up (15 years), evolution was slowly progressive.
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.
Keywords
Adult, Aged, DNA, Mitochondrial/genetics, Deafness, Diabetes Mellitus, Type 2, Female, Humans, Macular Degeneration, Middle Aged, Mitochondrial Diseases, Mutation/genetics, Retinal Diseases
Pubmed
Web of science
Create date
19/05/2021 13:27
Last modification date
13/01/2024 8:09
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