Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.

Genome-wide studies may lead to the discovery of genetic variants of potential clinical importance beyond the aims of the study. We performed single nucleotide polymorphism array analysis in a boy with oculocutaneous albinism to identify copy-neutral regions of homozygosity harboring genes involved in melanin biosynthesis. An unanticipated homozygous deletion of chromosome 5p13.

A prospective, randomized trial of pyrimethamine and azithromycin vs pyrimethamine and sulfadiazine for the treatment of ocular toxoplasmosis.

Objective: To compare the effects of two treatment regimens, one of which included azithromycin, for the treatment of sight-threatening (near optic disk or fovea) ocular toxoplasmosis.

Design: Prospective, randomized open-labeled multicenter study, masked in part with regard to evaluation.

Methods: PARTICIPANTS TOTAL ENROLLMENT: 46 patients with sight-threatening ocular toxoplasmosis; pyrimethamine and azithromycin group: 24 patients; pyrimethamine and sulfadiazine group: 22 patients.