title: A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
abstract: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation.
  
  
  
  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).
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Ryoko
authors.initials: R
authors.lastname: Oki
authors.affiliation: Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Kisaburo
authors.initials: K
authors.lastname: Yamada
authors.affiliation: Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Nakano
authors.affiliation: Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kimoto
authors.affiliation: Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Yamamoto
authors.affiliation: Department of Ophthalmology, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kondo
authors.affiliation: Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Kubota
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D000951:Antigens, Neoplasm / Q000235:genetics* / Q000378:metabolism; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005584:Fovea Centralis / Q000473:pathology*; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D055815:Young Adult
chemical_list: D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human; D004247:DNA