Flash visually evoked cortical potentials have been recorded in three groups of age- and sex-matched subjects; one comprised of subjects with dissociated vertical deviation, one comprised of subjects with oculocutaneous albinism and one group of controls. The latency of the major positive (P2) component did not show statistically significant contralateral lateralization on monocular stimulation...

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predispose...

Cutaneous basal and squamous cell carcinomas are among the most frequent malignancies in the white population, with the annual incidence estimates ranging from 1 million to 3.5 million cases in the United States. These tumors can occur either sporadically or in the context of hereditary genodermatoses with cancer predisposition, such as basal cell nevus syndrome, xeroderma pigmentosum, epidermo...

Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin. Each is thought to result from a different mutant allele at the tyrosinase locus, with the mutation producing an enzyme with little or no activity in all involved tissues. In this paper, we report a new type o...

An increase in length, curling, pigmentation, or thickness of eyelashes is termed eyelash trichomegaly. It may be inherited as an isolated trait or as a feature of a congenital syndrome such as Oliver-McFarlane syndrome or oculocutaneous albinism. Acquired conditions associated with eyelash trichomegaly include HIV infection, connective tissue disorders, and the administration of drugs such as ...