Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

doi:10.1167/iovs.16-19670

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Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

Investigative ophthalmology & visual science - 1 Sept 2016

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

Abstract excerpt

PURPOSE: To determine the clinical and genetic characteristics of Japanese patients with occult macular dystrophy (OMD) in a nationwide multicenter study. METHODS: Twenty-three patients from 21 families with clinically diagnosed OMD were studied at 10 institutions throughout Japan. Ophthalmologic examinations including spectral-domain optic coherence tomography were performed. Patients were classified into two...

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PMID: 27623337
DOI: 10.1167/iovs.16-19670

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