Azusa Kominami   Shinji Ueno   Taro Kominami   Ayami Nakanishi   Yasuki Ito   Kaoru Fujinami   Kazushige Tsunoda   Takaaki Hayashi   Sachiko Kikuchi   Shuhei Kameya   Takeshi Iwata   Hiroko Terasaki   
Ophthalmic genetics 39(2) 255-262 2018年4月
BACKGROUND: Biallelic variants of POC1B were recently reported to cause autosomal recessive non-syndromic cone dystrophy. However, the number of studies supporting this is limited, and the clinical phenotypes of cone dystrophy have not been defini...