Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization

Ophthalmology. 1985 Nov;92(11):1496-505. doi: 10.1016/s0161-6420(85)33832-0.

Abstract

The clinical, ophthalmological, and biochemical characteristics of a 28-year-old black woman with brown oculocutaneous albinism were determined. Hair color was medium brown and skin color was light brown, and a faint tan developed with sun exposure. The irides were light brown in the central one-third, blue-gray in the peripheral two-thirds, and showed punctate and radial translucency. Visual acuity was 20/60 in the right eye and 20/100 in the left eye. There was a moderate pendular nystagmus, and previous surgeries had corrected an exotropia. The foveal reflex was muted, and the retinal pigment was reduced. Hairbulb tyrosinase activity was 1.75 pmoles/120 min/hairbulb, hairbulb glutathione content 0.83 nmoles/hairbulb, and urine excretion of 5-S-cysteinyldopa 174.9 ng/mg creatinine. Electron microscopy of hairbulb and skin melanocytes showed arrested melanosomal development. These findings suggest that there is a partial block in the distal eumelanin pathway in this form of albinism. The ophthalmological characteristics of six additional cases of this form of albinism are also presented.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Albinism / genetics
  • Albinism / metabolism*
  • Albinism / pathology
  • Albinism / physiopathology
  • Black People*
  • Cysteinyldopa / metabolism
  • Eye / physiopathology*
  • Female
  • Fundus Oculi
  • Glutathione / metabolism
  • Humans
  • Microscopy, Electron
  • Monophenol Monooxygenase / metabolism
  • Pedigree
  • Skin / ultrastructure

Substances

  • Cysteinyldopa
  • Monophenol Monooxygenase
  • Glutathione