Human Albinism: Light and Electron Microscopy Study

Anne B. Fulton, Daniel M. Albert, Joseph L. Craft

Research output: Contribution to journalArticlepeer-review

97 Scopus citations

Abstract

The eyes of a 13-year-old leukemic boy with the attributes of tyrosinase-negative oculocutaneous albinism were obtained for light and electron microscopic study. Repeated examinations had failed to reveal WBCs with giant oxidase-positive granules, and leukemic involvement of the fundus never occurred. Light microscopic examination of horizontal and vertical sections through the retina confirms earlier reports that the fovea is absent in albinos. The synaptic apparatus of the photoreceptor terminals appears abnormal. The rough endoplasmic reticulum of the retinal pigment epithelial cells is sparse though the presence of phagosomes suggests that phagocytic function is intact. Suggestions as to the importance that the morphological findings may have on albino visual function are made.

Original languageEnglish (US)
Pages (from-to)305-310
Number of pages6
JournalArchives of ophthalmology
Volume96
Issue number2
DOIs
StatePublished - Feb 1978
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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