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(aka Oculocutaneous Albinism)
Tyrosinase (+) vs. Tyrosinase (-)
| • | major clue to diagnosis = ophthalmic abnormalities including: nystagmus, decreased visual acuity, monocular vision, photophobia |
| • | decreased visual acuity thought to be related to hypoplasia of the fovea (a relatively hyperpigmented portion of the retina) |
| • | classified into 7 types (including Hermansky-Pudlak syndrome and Chediak-Higashi syndrome) |
| • | therefore in history must ask: SOB? recurrent infection? bleeding diathesis? |
| • | autosomal recessive; Puerto Ricans (1 in 21 carry mutatation) |
| • | = OCA oculocutaneous albinism plus hemorrhagic diathesis secondary to the absence of dense bodies in platelets |
| • | may have completely absent to normal pigment |
| • | majority have ocular findings similar to albinism |
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