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Selective reduction of S-cone response and on-response in the cone electroretinograms of patients with X-linked retinoschisis

✍ Scribed by Shuichi Yamamoto; Masanori Hayashi; Mieko Tsuruoka; Kazuha Ogata; Itsuro Tsukahara; Teiko Yamamoto; Shinobu Takeuchi


Book ID
106096602
Publisher
Springer-Verlag
Year
2002
Tongue
English
Weight
35 KB
Volume
240
Category
Article
ISSN
0065-6100

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Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations in KCNV2, a gene that encodes a modulatory subunit (Kv8.2) of a voltage-gated potassium channel. In this study, we found that KCNV2 mutations