Clinical findings in Japanese patients with Waardenburg syndrome type 2

Jpn J Ophthalmol. 2003 Jan-Feb;47(1):77-84. doi: 10.1016/s0021-5155(02)00629-9.


Purpose: To determine the visual characteristics of Japanese subjects with the Waardenburg syndrome type 2.

Methods: The visual functions of 11 albino patients who were identified from the screening of 240 children attending a school for children with a hearing deficit were studied. The ophthalmological examinations included eye position, visual acuity, biomicroscopy, ophthalmoscopy, visual field by confrontation or Goldmann's perimetry, stereoacuity by the Titmus test, and color vision by the Ishihara pseudoisochromatic plates.

Results: A combination of congenital sensory deafness and partial ocular albinism without lateral displacement of the lacrimal puncta was observed in 11 (4.6%) of the students with hearing deficit. All these children had sectorial heterochromia irides with local retinal hypopigmentation. Lid deformities were not present. The retinal vasculature was normal, and macular hypoplasty was not found. Other than 1 eye with hyperopic amblyopia, no serious visual disturbance was found in these patients.

Conclusions: The 11 students were classified as having Waardenburg syndrome type 2. None had a critical visual deficit, and all had partial heterochromia irides and retinal hypopigmentation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Albinism, Ocular / diagnosis
  • Albinism, Ocular / ethnology
  • Albinism, Ocular / etiology*
  • Child
  • Child, Preschool
  • Female
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / ethnology
  • Hearing Loss, Sensorineural / etiology*
  • Humans
  • Iris Diseases / diagnosis
  • Iris Diseases / ethnology
  • Iris Diseases / etiology*
  • Japan / epidemiology
  • Male
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / ethnology
  • Pigmentation Disorders / etiology*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / ethnology
  • Retinal Diseases / etiology*
  • Visual Acuity
  • Visual Fields
  • Waardenburg Syndrome / complications*
  • Waardenburg Syndrome / diagnosis
  • Waardenburg Syndrome / ethnology