Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders characterized by an abnormally low amount of melanin in the eyes, skin and hair, and associated with common developmental abnormalities of the eye. Defects in the tyrosinase gene (TYR) cause a common type of OCA, known as oculocutaneous albinism type 1 (OCA1). The molecular basis of OCA has been studied exte...

The original pink-eyed dilution (p) on chromosome 7 is a very old spontaneous mutation in mice. The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. Oca2 transcripts have been shown to be absent in the skin of SJL/J mice with the original p mutant allele (Oca2(p)); however, the molecular genetic lesion underlying the original Oca2(p) allele has never been rep...

It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. The presence of retino-geniculo-cortical misrouting, a hallmark of the visual system in albinism, does not necessarily cause total loss of binocular vision, however, not even in albino patients with strabismus. Recently some degrees of stereopsis were reported ...

Flash visual evoked potentials (F. VEPs) and electroretinograms (ERGs) were recorded in a total of 20 young children with albinism (age range 5 months to 11 years, mean 4 years). All recordings were made without sedation. There were 13 oculocutaneous cases (one with Hermansky-Pudlak syndrome) and seven ocular albinos. Monocular flash stimulation commonly elicited an asymmetrical occipital VEP d...

To the Editor : Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin and hair (1). On the basis of its clinical presentation, OCA can manifest in either isolated or syndromic fashion under a variety of inheritance models (1). To date, four loci have been mapped for recessively inherited isolated OCA, and genes for all of th...

BACKGROUND Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal. METHODS This was a cross-sectional descriptive hospital-based study of all diag...