BACKGROUND Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. OBJECTIVE The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. PATIENTS AND METHODS Four non-consangu...

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...

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainl...