يك نوع سندرم هرمانسكي - پودلاك

Hermansky-Pudlak Syndrome: A Case Report

Purpose: To report a case of Hermansky-Pudlak Syndrome (HPS). Case Report: 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. Conclusion: Patients with albinism should be evaluated for HPS before surgery to prevent life threatening complications.