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Retinal cone dystrophy 3B; RCD3B

Disease ID:820
Name:Retinal cone dystrophy 3B; RCD3B
Associated with:1 target
Cone dystrophy with supernormal rod response
Database Links
OMIM: 610356
Orphanet: ORPHA209932


References:  4
Mutations:  Kv8.2 is associated with 16 mutation. Click here for details


No ligand related data available for Retinal cone dystrophy 3B; RCD3B


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1. Smith KE, Wilkie SE, Tebbs-Warner JT, Jarvis BJ, Gallasch L, Stocker M, Hunt DM. (2012) Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. J Biol Chem, 287 (52): 43972-83. [PMID:23115240]

2. Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T et al.. (2008) Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci, 49 (2): 751-7. [PMID:18235024]

3. Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR et al.. (2011) Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat, 32 (12): 1398-406. [PMID:21882291]

4. Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. (2006) Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. Am J Hum Genet, 79 (3): 574-9. [PMID:16909397]