title: Waardenburg syndrome in Japanese patients. Case reports and literature review.
abstract: A 3-year-old girl (case 1) had a blue iris and albinotic fundus in the right eye and bilateral deafness. Her 6-month-old sister (case 2) had hypopigmented irides and fundi in both eyes and bilateral deafness. We found that the ratios of interinner canthal distance to interpupillary distance were less than 0.65 in normal Japanese controls. In our patients, these ratios were within the normal range, indicating the absence of dystopia canthorum. After reviewing the recent Japanese literature, we found that the hypopigmented iris and deafness seen in our patients are common in Japanese patients with Waardenburg syndrome.
authors.affiliation: Department of Ophthalmology, Shimane Medical University, Izumo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Hayasaka
authors.forename: S
authors.initials: S
authors.lastname: Noda
authors.forename: T
authors.initials: T
authors.lastname: Setogawa
authors.forename: A
authors.initials: A
authors.lastname: Kobayashi
authors.forename: K
authors.initials: K
authors.lastname: Kishida
authors.forename: T
authors.initials: T
authors.lastname: Sakai
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000208:ethnology; D002675:Child, Preschool; D003638:Deafness / Q000208:ethnology; D005127:Eye Color; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007498:Iris / Q000473:pathology; D007564:Japan; D008297:Male; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000208:ethnology* / Q000235:genetics