RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort

PURPOSE: To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort. METHODS: Twenty-five patients from 22 pedigrees with RDH5-related FAP were studied. Ophthalmic medical records were reviewed. For genetic analysis, either Sanger sequencing of the RDH5 g...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Katagiri, Satoshi, Hayashi, Takaaki, Nakamura, Masaki, Mizobuchi, Kei, Gekka, Tamaki, Komori, Shiori, Ueno, Shinji, Terasaki, Hiroko, Sakuramoto, Hiroyuki, Kuniyoshi, Kazuki, Kusaka, Shunji, Nagashima, Ryunosuke, Kondo, Mineo, Fujinami, Kaoru, Tsunoda, Kazushige, Matsuura, Tomokazu, Kondo, Hiroyuki, Yoshitake, Kazutoshi, Iwata, Takeshi, Nakano, Tadashi
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2020
Assuntos:
Retina
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7401827/
https://ncbi.nlm.nih.gov/pubmed/32232344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.3.53
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