The Eye in the Hermansky-Pudlak Syndrome: A Literature Review - Abstract
Introduction: The Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by oculo cutaneous albinism, a bleeding diathesis and lysosomal accumulation of ceroid lipofuscin.
Objectives: To do a comprehensive literature review of the clinicopathological findings in patients with the Hermasnky-Pudlak syndrome, its diagnosis, management, and treatment.
Methods: A literature review of the Hermansky-Pudlak syndrome was done.
Conclusion: Patients with the various genotypes leading to the Hermansky-Pudlak syndrome have multiple ocular and systemic manifestations with extensive genotypic and phenotypic variability. Co-management between Primary Physicians, Ophthalmologists, and other subspecialists is of outmost importance. Patients’ co management must be customized individually, taking into account patient’s end goal, comorbidities, and bleeding diathesis. Genetic testing and counseling is of outmost importance in patients with the syndrome.