Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyros...

This paper takes on an enormous task. It attempts to explain the history and origins of the attacks against persons with albinism (PWA). i In light of the monstrosity of this subject matter, this paper can only scratch the surface of the issue. That said, it is our hope that the information which we have gathered, not only from media sources but from academics and our personal experiences with ...

Early childhood education is critical in building civil, enlightened and developed society. It therefore important to pay attention issues that appears as impediment realization of early inclusive education. Studies have revealed several violence, discrimination shocking social exclusion inside outside school for children with albinism. In fact, workers, student counsellors, caregivers, teacher...

PURPOSE Subjects with albinism usually suffer from nystagmus and reduced visual acuity, which may impair reading performance. The contribution of nystagmus to decreased reading ability is not known. Low vision and nystagmus may have an additive effect. We aimed to address this question by motion compensation of the nystagmus in affected subjects and by simulating nystagmus in healthy controls. ...

INTRODUCTION A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed. CASE PRESENTATION We present the case of a 21-year-old A...

BACKGROUND Oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair, skin and eyes. Ocular signs associated with the disease are nystagmus, decreased visual acuity, hypopigmentation of the retina, foveal hypoplasia, translucency of the iris, macular transparency, photophobia and abnormal decussation of nerve fibers at the chiasm. CASE REPORT A...

PURPOSE To compare development of acuity in patients with isolated infantile nystagmus and infantile nystagmus associated with a visual sensory defect. METHODS Visual acuities in 57 children (1 month to 4 years of age) with infantile nystagmus were assessed by using Teller acuity cards oriented vertically during binocular viewing. Twenty-two had isolated infantile nystagmus, 21 had albinism, ...

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole ...

Delineating the extent and limits of cortical plasticity is fundamental to understanding human neurophysiology. While cortical plasticity is often studied in the extreme cases of sensory loss (Büchel et al., 1998) or deafferentation (Buonomano andMerzenich, 1998), nature provides rare cases in which all ‘components’ of a neural network are intact, yet neural pathways develop atypically. Here we...

BACKGROUND Oculocutaneous albinism type 2 (OCA2) is caused by mutations of the OCA2 gene. Individuals affected by OCA2 as well as other types of albinism are at a significantly increased risk for sun-induced skin-cancers, including malignant melanoma (MM). OBJECTIVE To identify the molecular etiology of oculocutaneous albinism in a previously uncharacterized melanoma pedigree and to investiga...