Kondo Hiroyuki
   Department   School of Medicine  Ophthalmology, Clinical Medical Sciences
Article types journal article
Language English
Peer review Peer reviewed
Title A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
Journal Formal name:Investigative ophthalmology & visual science
Abbreviation:Invest Ophthalmol Vis Sci
ISSN code:15525783/01460404
Domestic / ForeginForegin
Volume, Issue, Page 58(2),1008-1016頁
Author and coauthor Oki Ryoko, Yamada Kisaburo, Nakano Satoko, Kimoto Kenichi, Yamamoto Ken, Kondo Hiroyuki, Kubota Toshiaki
Publication date 2017/02
Summary Purpose:We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation.Methods:A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis. Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4).Results:All 16 patients exhibited hypopigmentation of their hair and/or iris. They showed foveal hypoplasia, including 3 patients with grade 1 foveal hypoplasia, 7 with grade 2, and 6 with grade 3. No patient had grade 4 foveal hypoplasia. Optical coherence tomography showed macular ganglion cell complex thinning in the temporal area, and a slight reduction of visual field sensitivity in the centrotemporal area. A maximum multipoint parametric logarithm of the odds (LOD) score of approximately 2.00 to 3.56 was obtained on chromosome 5, spanning approximately 7.2 Mb between rs13187570 and rs395967 that included the SLC45A2 gene. All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4.Conclusions:The present study reports a very rare family with autosomal dominant OCA4 whose diagnosis was confirmed by a mutational analysis. Most family members exhibited mild general hypopigmentation and low-grade foveal hypoplasia.
DOI 10.1167/iovs.16-20612
PMID 28192564