title: The Hermansky-Pudlak syndrome.
abstract: The Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism with a haemorrhagic diathesis and the accumulation of ceroid-like material in different tissues. HPS is not an uncommon type of albinism as it was diagnosed in 13.5% (8/59) of our autosomal recessive albinos. These eight patients were evaluated ophthalmologically and haematologically. Apart from the symptoms caused by the albinism, accompanying signs vary from ecchymoses to life threatening haemorrhages and death by associated restrictive lung disease. Recognition of this syndrome by the ophthalmologist can be of major importance in this serious and eventually fatal disorder.
authors.affiliation: Department of Ophthalmology, University Hospital Ghent, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Brandt
authors.forename: F
authors.initials: F
authors.lastname: Offner
authors.forename: J
authors.initials: J
authors.lastname: Quatacker
authors.forename: J
authors.initials: J
authors.lastname: Phillipe
authors.forename: F
authors.initials: F
authors.lastname: Meire
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000453:epidemiology; D001530:Belgium / Q000453:epidemiology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011647:Puerto Rico / Q000453:epidemiology