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...

A review of published clinical reports shows that anorexia nervosa has been found in association with several genetic anomalies, principally gonosomal aneuploidy. An additional, and unique, association is described here: a case of anorexia nervosa in a patient with the yellow mutant form of oculocutaneous albinism and no other apparent chromosomal abnormalities. While the concurrence of these t...

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 ...

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction. A subset of patients also show ceroid deposition, which can result in pulmonary fibrosis or granulomatous colitis. Whether this colitis may be considered Crohn's disease is under debate. We report a case of a patient with HPS associated with inflammatory bowe...

We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained w...

Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are lim...

BACKGROUND Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and hyperinflammation, and the only cure known to date is hematopoietic stem cell transplantation. Mutations in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screened for mutati...