NovelRP1L1Variants and Genotype–Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy | Zendy

Kaoru Fujinami | Zendy; Shuhei Kameya | Zendy; Sachiko Kikuchi | Zendy; Shinji Ueno | Zendy; Mineo Kondo | Zendy; Takaaki Hayashi | Zendy; Kei Shinoda | Zendy; Shigeki Machida | Zendy; Kazuki Kuniyoshi | Zendy; Yuichi Kawamura | Zendy; Masakazu Akahori | Zendy; Kazutoshi Yoshitake | Zendy; Satoshi Katagiri | Zendy; Ayami Nakanishi | Zendy; Hiroyuki Sakuramoto | Zendy; Yoko Ozawa | Zendy; Kazuo Tsubota | Zendy; Kunihiko Yamaki | Zendy; Atsushi Mizota | Zendy; Hiroko Terasaki | Zendy; Yozo Miyake | Zendy; Takeshi Iwata | Zendy; Kazushige Tsunoda | Zendy

Open Access

NovelRP1L1Variants and Genotype–Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy

Author(s) -

Kaoru Fujinami,

Shuhei Kameya,

Sachiko Kikuchi,

Shinji Ueno,

Mineo Kondo,

Takaaki Hayashi,

Kei Shinoda,

Shigeki Machida,

Kazuki Kuniyoshi,

Yuichi Kawamura,

Masakazu Akahori,

Kazutoshi Yoshitake,

Satoshi Katagiri,

Ayami Nakanishi,

Hiroyuki Sakuramoto,

Yoko Ozawa,

Kazuo Tsubota,

Kunihiko Yamaki,

Atsushi Mizota,

Hiroko Terasaki,

Yozo Miyake,

Takeshi Iwata,

Kazushige Tsunoda

Publication year - 2016

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-19670

Subject(s) - missense mutation , phenotype , genetics , biology , exome sequencing , genotype , cohort , medicine , pathology , gene

To determine the clinical and genetic characteristics of Japanese patients with occult macular dystrophy (OMD) in a nationwide multicenter study.

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