[Hermansky-Pudlak syndrome: a case report]

ABSTRACT

To report a case of Hermansky-Pudlak Syndrome [HPS]. A 7-year-old boy presented with marked generalized hypopigmentation, eye deviation and nystagmus. In addition he had history of easy bruising. Visual acuity was 20/200. He had markedly translucent green irides, hypermetropic astigmatism, horizontal nystagmus and marked exotropia. Funduscopy revealed a hypopigmented retina and foveal hypoplasia. He was found to have platelet storage defect with deficient adenosine diphosphate and abnormal aggregation compatible with Hermansky-Pudlak syndrome. He underwent strabismus surgery considering precautions such as reserving platelets for any hemorrhagic event. Patients with albinism should be evaluated for HPS before surgery to prevent life threatening complications