Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3)

Hermansky-Pudlak syndrome.

We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon. In spite of all the classical features of this genetic disorder he was labeled to have disseminated tuberculous infectio...

Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome.

A 55-year-old man had oculocutaneous albinism and a history of frequent bruising following minimal trauma. The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pudlak syndrome follows an autosomal recessive trait and is most frequently found in Puerto Rico and in the Swiss alps. It consists of the triad phenotype of hypopigmentation, p...

Hermansky-Pudlak syndrome

Inherited platelet function disorders (IPFDs) encompass a heterogeneous group of haemorrhagic diseases caused by congenital defects of platelets function affecting various elements of the platelet physiology (membrane receptors, intraplatelet signalling proteins, granules), and leading to different clinical manifestations (1–3). Platelets have three types of secretory granules that differ in th...

P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.

O culocutaneous albinism (OCA) is a genetically heterogeneous disorder characterised by abnormally low amounts of melanin in the eyes, skin, and hair. In addition to hypopigmentation of the skin and eyes, OCA patients have ocular manifestations including nystagmus, foveal hypoplasia with reduced visual acuity, and strabismus. Several subtypes of OCA exist. OCA2, the most common subtype, results...