Open AccessA Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4
Author(s) -
Ryoko Oki,
Kisaburo Yamada,
S Nakano,
Kenichi Kimoto,
Ken Yamamoto,
Hiroyuki Kondo,
Toshiaki Kubota
Publication year - 2017
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.16-20612
Subject(s) - oculocutaneous albinism , hypoplasia , hypopigmentation , foveal , genetics , albinism , ophthalmology , biology , medicine , anatomy , retinal
We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation.
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