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Journal article

X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene.

Abstract:

In this report, we describe a male subject who presents with a complex phenotype of myopia associated with cone dysfunction and a protan vision deficiency. Retinal imaging demonstrates extensive cone disruption, including the presence of non-waveguiding cones, an overall thinning of the retina, and an irregular mottled appearance of the hyper-reflective band associated with the inner segment ellipsoid portion of the photoreceptor. Mutation screening revealed a novel p.Glu41Lys missense mutati...

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Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
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Journal:
Vision research
Volume:
80
Pages:
41-50
Publication date:
2013-03-01
DOI:
EISSN:
1878-5646
ISSN:
0042-6989
Source identifiers:
375737
Language:
English
Keywords:
Pubs id:
pubs:375737
UUID:
uuid:7872fd70-aa47-420f-876e-7c67417bae3e
Local pid:
pubs:375737
Deposit date:
2013-11-16

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