7th November 2017: This week we look at Oculo Cutaneous Albinism and two associated syndromes that one should rule out in albinotic patients.
Hermansky-Pudlak Syndrome is a rare autosomal recessive metabolic disorder which causes albinism, visual impairment, and platelet dysfunction. Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by recurrent pyogenic infections, partial oculocutaneous albinism, progressive neurologic abnormalities, mild coagulation defects, and a lymphoma-like accelerated phase.
Two common syndromes associated with Oculo Cutaneous Albinism are Hermansky Pudlak and Chediak Hegashi syndrome.
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