Article
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
Japanese journal of ophthalmology - 1 Nov 2016
Kuniyoshi Kazuki, Hayashi Takaaki, Sakuramoto Hiroyuki, Mishima Hiroshi, Tsuneoka Hiroshi, Tsunoda Kazushige, Iwata Takeshi, Shimomura Yoshikazu
Abstract excerpt
PURPOSE: The enhanced S-cone syndrome (ESCS) is a rare hereditary retinal degeneration that has enhanced short wavelength-sensitive cone (S-cone) functions. The longitudinal clinical course of this disease has been rarely reported, and the genetic aspects of ESCS have not been well investigated in the Japanese population. In this report, we present our clinical and genetic findings for 2 patients with ESCS....
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