Pigment in animal tissue results from the union of 2 substances: a colorless chromogen and a ferment or enzyme which activates the chromogen. Where either of these is absent there is no pigment, or, if present but in insufficient amount, the tissue is lacking in pigment in a proportionate degree. Lack of pigment in tissue is known as albinism. It is a hereditary genetic defect. The entire body ...

PURPOSE To investigate a proposed postretinal defect in patients with the incomplete form of congenital stationary night blindness (CSNB2) and to compare visual evoked potential (VEP) results with those found in various forms of albinism. METHODS Visual evoked potentials were performed in 10 patients with a diagnosis of CSNB2, 10 subjects with albinism, and 17 normal subjects. Visual evoked p...

Albinism is a relatively common genetic condition in Zimbabwe, a tropical country in southern Africa. Those affected have little pigment in their hair, skin or eyes, in sharp contrast to the normal dark pigmentation. This article describes the responses to a self-report questionnaire covering health, social and educational aspects completed by 138 schoolchildren with albinism living in rural ar...

OBJECTIVES To evaluate the spectrum of foveal architecture in pediatric albinism and to assess the utility of spectral-domain optical coherence tomography (OCT) in ocular imaging of children with nystagmus. METHODS Spectral-domain OCT imaging was performed on study subjects in 3 groups: subjects with ocular albinism (OA) or suspected OA with foveal hypoplasia, with nystagmus, and with or with...

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 ...

Chediak-Higashi syndrome (CHS), an autosomal recessive defect of polymorphonuclear leucocytic function is characterized by increased susceptibility to pyogenic infections, oculocutaneous albinism, neutropenia and presence of abnormal granules in leucocytes. This rare disorder has been described in approximately 80 cases from world over including three reports from India since its first descript...

Visual evoked potential testing was performed on 15 Negro carriers of the gene for tyrosinase positive oculocutaneous albinism in order to detect whether they have the same visual pathway decussation anomalies as do homozygotes. No subject showed 01-02 asymmetry on monocular testing, indicating that decussation follows the normal pattern. It is concluded that visual evoked potential testing is ...

Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...

PURPOSE Our goal was to evaluate the OA1 gene, also known as G-protein coupled receptor 143 (GPR143), in two United States families, one from the mid-west and one from the mid-south, who had clinical features of X-linked ocular albinism. Both families had previously tested negative for mutations. METHODS Selected family members underwent a detailed ophthalmologic evaluation. Blood samples wer...

The genetic condition albinism has a high frequency among the Sotho people of northern South Africa. Affected children have pale hair, eyes and skin-a dramatic contrast to the normal dark pigmentation. Their visual performance is poor and many attend special schools for the visually impaired. Children with albinism experience problems that are, on the one hand, physiological, and, on the other,...