Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3
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The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction
2008, Survey of OphthalmologyCitation Excerpt :These electroretinographic abnormalities are indistinguishable from those observed in melanoma-associated retinopathy (MAR) (see subsequent discussion) and stress the need to interpret electrophysiology in clinical context. CSNB1 is associated with mutation in the NYX gene on Xp11.4, which encodes the protein nyctalopin.34,181 Nyctalopin is a leucine-rich repeat protein, a member of the small leucine-rich proteoglycan (SLRP) family.
Retinitis Pigmentosa and Allied Disorders
2005, Retina: Fourth EditionX-linked cone dysfunction syndrome with myopia and protanopia
2005, OphthalmologyOcular genetics: Current understanding
2004, Survey of OphthalmologyClinical diagnoses that overlap with choroideremia
2003, Canadian Journal of Ophthalmology
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