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Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

INTRODUCTION: The mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not been previously described. METHODS: A complete hist...

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Autores principales: Rath, P P, Jenkins, S, Michaelides, M, Smith, A, Sweeney, M G, Davis, M B, Fitzke, F W, Bird, A C
Formato: Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2569141/
https://www.ncbi.nlm.nih.gov/pubmed/18441172
http://dx.doi.org/10.1136/bjo.2007.131177
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author Rath, P P
Jenkins, S
Michaelides, M
Smith, A
Sweeney, M G
Davis, M B
Fitzke, F W
Bird, A C
author_facet Rath, P P
Jenkins, S
Michaelides, M
Smith, A
Sweeney, M G
Davis, M B
Fitzke, F W
Bird, A C
author_sort Rath, P P
collection PubMed
description INTRODUCTION: The mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not been previously described. METHODS: A complete history and ophthalmic examination, including fundus photography and autofluorescence imaging, was performed on twelve probands harbouring the A3243G point mutation. RESULTS: Four patients had diabetes, 10/12 hearing loss, and 7/12 were visually symptomatic. A positive family history was present in 5/12. Fundus findings consisted of two primary phenotypes: discontinuous circumferentially oriented perifoveal atrophy (9/12) or an appearance consistent with pattern dystrophy (3/12). In both phenotypes pale deposits and pigment clumping were seen at the level of the retinal pigment epithelium, with occasional changes also noted outside the arcades and nasal to the optic nerve. Fundus AF imaging revealed decreased autofluorescence in areas of atrophy and increased AF of the pale subretinal deposits. In areas of the retina that appeared normal clinically, variable sized flecks of increased and decreased AF were present. CONCLUSIONS: The mitochondrial DNA A3243G point mutation can result in disease with a variable presentation. Fundus autofluorescence reveals a recognisable phenotype in most cases that is different from other macular dystrophies.
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spelling pubmed-25691412008-10-24 Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence Rath, P P Jenkins, S Michaelides, M Smith, A Sweeney, M G Davis, M B Fitzke, F W Bird, A C Br J Ophthalmol Clinical Science INTRODUCTION: The mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not been previously described. METHODS: A complete history and ophthalmic examination, including fundus photography and autofluorescence imaging, was performed on twelve probands harbouring the A3243G point mutation. RESULTS: Four patients had diabetes, 10/12 hearing loss, and 7/12 were visually symptomatic. A positive family history was present in 5/12. Fundus findings consisted of two primary phenotypes: discontinuous circumferentially oriented perifoveal atrophy (9/12) or an appearance consistent with pattern dystrophy (3/12). In both phenotypes pale deposits and pigment clumping were seen at the level of the retinal pigment epithelium, with occasional changes also noted outside the arcades and nasal to the optic nerve. Fundus AF imaging revealed decreased autofluorescence in areas of atrophy and increased AF of the pale subretinal deposits. In areas of the retina that appeared normal clinically, variable sized flecks of increased and decreased AF were present. CONCLUSIONS: The mitochondrial DNA A3243G point mutation can result in disease with a variable presentation. Fundus autofluorescence reveals a recognisable phenotype in most cases that is different from other macular dystrophies. BMJ Publishing Group 2008-05 2008-01-22 /pmc/articles/PMC2569141/ /pubmed/18441172 http://dx.doi.org/10.1136/bjo.2007.131177 Text en © Rath et al 2008 http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Science
Rath, P P
Jenkins, S
Michaelides, M
Smith, A
Sweeney, M G
Davis, M B
Fitzke, F W
Bird, A C
Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
title Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
title_full Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
title_fullStr Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
title_full_unstemmed Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
title_short Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
title_sort characterisation of the macular dystrophy in patients with the a3243g mitochondrial dna point mutation with fundus autofluorescence
topic Clinical Science
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2569141/
https://www.ncbi.nlm.nih.gov/pubmed/18441172
http://dx.doi.org/10.1136/bjo.2007.131177
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