Hermansky-Pudlak Syndrome: Ophthalmic Findings

Carole G Summers, William H. Knobloch, Carl J. Witkop, Richard A. King

Research output: Contribution to journalArticlepeer-review

89 Scopus citations

Abstract

Prospective ophthalmic evaluation was performed in 20 individuals with Hermansky-Pudlak syndrome, a type of oculocutaneous albinism with an associated deficiency of dense bodies in platelets. The extent of visual impairment and the possible relationship to the degree of hypopigmentation were studied. All patients showed nystagmus, visual acuity ranged from 20/60 to 20/400, and correction of refractive error provided a mild improvement in vision. Iris pigmentation varied in amount and did not correlate with the visual acuity measurement. Foveal hypoplasia was found in all patients, but variability in macular transparency and vascular architecture was noted. Visual-evoked potentials performed in 11 patients demonstrated excessive decussation of optic fibers. Recognition of this form of oculocutaneous albinism is important because of the associated pulmonary, gastrointestinal, renal, and cardiac manifestations of Herman sky-Pudlak syndrome.

Original languageEnglish (US)
Pages (from-to)545-554
Number of pages10
JournalOphthalmology
Volume95
Issue number4
DOIs
StatePublished - 1988

Keywords

  • Hermansky-Pudlak syndrome
  • albinism
  • foveal hypoplasia
  • iris transillumination
  • visual-evoked potential

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