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Journal article

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant.

Abstract:

Background/Aim

The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes and bilateral cortical cataracts.

Methods

The patient was examined clinically and investigated with autofluorescenc...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More from this funder
Name:
Medical Research Council
Grant:
G0601943
More from this funder
Name:
Wellcome Trust
Grant:
096919/Z/11/Z
Publisher:
BMJ Publishing Group
Journal:
British Journal of Ophthalmology More from this journal
Publication date:
2017-07-01
Acceptance date:
2017-06-01
DOI:
ISSN:
1468-2079
Language:
English
Keywords:
Pubs id:
pubs:710016
UUID:
uuid:cedb9667-cba8-44b8-9c8e-a634fb4d1131
Local pid:
pubs:710016
Source identifiers:
710016
Deposit date:
2017-08-01

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