Article
[Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram].
Nippon Ganka Gakkai zasshi - 1 Aug 2013
Nakamura Natsuko, Tsunoda Kazushige, Fujinami Kaoru, Shinoda Kei, Tomita Kaoru, Hatase Tetsuhisa, Usui Tomoaki, Akahori Masakazu, Iwata Takeshi, Miyake Yozo
Abstract excerpt
BACKGROUND: 'Cone dystrophy with a supernormal rod electroretinogram (ERG)' is rare form of cone dystrophy, and no longitudinal description of the disease course has been reported in a Japanese population. Here, we describe long-term courses of 10 to 15 years in four Japanese patients with mutations in the KCNV2 gene. CASES: Four patients from three families were recruited. Two were siblings (Case 1, 24 y/o...
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