Variable expression of vision in sibs with albinism

C. G. Summers, D. Creel, D. W. Townsend, R. A. King

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

Oculocutaneous albinism is defined by the presence of cutaneous and ocular hypopigmentation, the latter associated with nystagmus, iris transillumination, reduced retinal pigment, foveal hypoplasia, and misrouting of the optic fibers at the chiasm. The visual acuity is variable but almost always reduced. We report on two brothers with oculocutaneous albinism and markedly different visual acuity. One brother has a visual acuity of 20/100, while the second has similar cutaneous pigmentation and visual acuity of 20/20 and had not previously been recognized as having oculocutaneous albinism. Both brothers have foveal hypoplasia and misrouting of the optic fibers at the chiasm. Biochemical analysis suggests that this is a tyrosinase-related type of oculocutaneous albinism. This study demonstrates that careful observation of foveal development in relatives with normal vision is necessary to detect all individuals with albinism in a family. A suspected diagnosis of albinism may be confirmed when the visual-evoked potentials show excessive decussation of the optic fibers at the chiasm.

Original languageEnglish (US)
Pages (from-to)327-331
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume40
Issue number3
DOIs
StatePublished - 1991

Keywords

  • autosomal recessive inheritance
  • foveal hypoplasia
  • melanin
  • tyrosinase
  • visual-evoked potential

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