- 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1016/j.visres.2012.12.012
-
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- Journal:
- Vision research
- Volume:
- 80
- Pages:
- 41-50
- Chapter number:
- C
- Publication date:
- 2013-03-05
- DOI:
- EISSN:
-
1878-5646
- ISSN:
-
0042-6989
- URN:
-
uuid:7872fd70-aa47-420f-876e-7c67417bae3e
- Source identifiers:
-
375737
- Local pid:
- pubs:375737
- Language:
- English
- Keywords:
- Copyright date:
- 2013
Journal article
X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene.
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