Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved...
PURPOSE: In human albinism, part of the temporal retina projects abnormally to the contralateral hemisphere. This study was undertaken to test whether this abnormality can be identified with multifoca...
A new form of ocular albinism, autosomal recessively inherited ocular albinism (AROA), was studied in seven females and two males from five unrelated Caucasian kindreds. Affected patients have the imp...
A pedigree of X-linked ocular albinism is presented containing nine affected males and 10 heterozygous females. One carrier female showed ocular changes similar to those of affected males. She is cons...
We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures, thin vermilion border of the upper lip, elongated philtrum, developme...