Introduction: Albinism comes from ‘albus’, the Latin word meaning white, and refers to a group of hereditary disorders wherein biosynthesis pigment melanin is absent or reduced. Oculocutaneous albinism (OCA) heterogeneous autosomal recessive disorder that involves lack in skin, hair, eyes, associated with ocular visual defects such as photophobia, strabismus, nystagmus low vision. Materials Met...

The effects of radioactive contamination on the phenotype of free-living organisms are poorly understood, mainly because of the difficulty of capturing the large numbers of individual specimens that are required to quantify rare events such as albinism and tumour formation. We hypothesized that the frequency of abnormalities like albinism and the frequency of radiation-induced diseases like can...

This article maintains that it is the social context, as much as, and sometimes more than the physical condition, that largely structures and limits the lives of people with albinism. It deals with albinism from a sociological, rather than a medical perspective. Viewed as such the problems experiencing by affected people stem primarily not from their physical differences but from the way others...

Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genetic variants, including 19 known single n...

Societal ideas and explanations of albinism at the local level in Tanzania are conceived in terms of family history, social relations, economic status, moral-religious positions, global-local flows of information and humanitarian actions on behalf of people with the congenital condition. This paper aims to show how the subjectivities of people with albinism in Tanzania are shaped and re-shaped ...

abstract: griscelli syndrome (gs) is a rare disease first described in 1978. it is inherited in autosomal recessive pattern. this disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation. we report a 5 months old iranian girl presenting with silver-gray hair,eyelashes and ...

PURPOSE Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. METHODS We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 s...

In humans with albinism, a large percentage of the ganglion cell axons from the temporal retina decussate abnormally in the chiasm and synapse in the contralateral LGN. The aim of this study was to determine whether the misrouting of the optic fibers can be detected by magnetoencephalography (MEG). Visually evoked magnetic fields (VEFs) were recorded from three patients with albinism. After mon...

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous ...

To the Editor: Albinism is a genetically heterogeneous group of disorders characterized by reduced melanin biosynthesis that primarily affects the skin and/or the eye (1). All known genetic causes are autosomal recessive except for X-linked isolated ocular albinism [Nettleship-Falls or OA1, GPR143 (G-protein coupled receptor 143)] (1). A total of 18 different genes have been identified to date,...