Hermansky–Pudlak syndrome (HPS) is a rare, heterogeneously inherited, autosomal recessive group of disorders presenting with a triad of oculocutaneous albinism, a haemorrhagic defect secondary to platelet dysfunction and accumulation of ceroid-like material in the reticuloendothelial system [1, 2]. Although pulmonary fibrosis has occurred in a number of patients with this syndrome and generally...

BACKGROUND Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA.  However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.  For those rare cases in which metastases occur, approximately one third metastasize to the lung.  CASE Presented is a 62-year-old Caucasian male with oculocutaneous albinism and...

PURPOSE Esotropia is a feature of albinism. Amongst esotropic patients there may be mild unrecognised albinos. Oculocutaneous albinism shares several clinical features with congenital esotropia. It is well known that mammals with oculocutaneous albinism have misrouted retinal ganglion cell axons, most likely caused by the absence of melanin or DOPA during development. We investigated the hypoth...

Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He als...