The Eye in the Hermansky-Pudlak Syndrome: A Literature Review
نویسندگان
چکیده
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.
منابع مشابه
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
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Case Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.
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Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.
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