Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array
Investigative Ophthalmology & Visual Science2010Vol. 51(8), pp. 3884–3884
Citations Over TimeTop 23% of 2010 papers
Abstract
Novel and known mutations affecting the L-M opsin gene array were identified in families with X-linked cone-dominated phenotypes. The results show that different mutations in this gene array can cause a variety of phenotypes, including BCM, cone dystrophy, and maculopathy. Males with X-linked cone-dominated diseases should be routinely analyzed for mutations in the L-M opsin gene array.
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