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

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...

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Bibliografiske detaljer
Main Authors:	McClements, Michelle, Davies, Wayne I L, Michaelides, Michel, Carroll, Joseph, Rha, Jungate, Mollon, John D, Neitz, Maureen, MacLaren, Robert E, Moore, Anthony T, Hunt, David M
Format:	Artigo
Sprog:	Inglês
Udgivet:	2013
Fag:	Article
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3594517/ https://ncbi.nlm.nih.gov/pubmed/23337435 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.visres.2012.12.012
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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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