Hermansky-Pudlak syndrome. Ophthalmic findings.

  title={Hermansky-Pudlak syndrome. Ophthalmic findings.},
  author={C. Gail Summers and William H. Knobloch and Carl Witkop and Richard L. King},
  volume={95 4},
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… CONTINUE READING
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