SUMMARY OBJECTIVE: Oculocutaneous albinism describes a group of pigmentary disorders that lead to skin sensitivity and predisposition malignances. Aims: To analyze clinical epidemiological data in oculocutaneous patients determine the prevalence malignant lesions, assessing possible risk factors for cancer. METHODS: Cross-sectional study evaluating data, habits sun exposure protection, examinat...

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...

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...

BACKGROUND In albinism the majority of the nerve fibers of the optic nerve originating from an eye are innervating the contralateral hemisphere. As a result of the predominantly monocular innervation of the left and right hemispheres, the unilateral activation of the visual cortex (lateralization) can be detected with visual evoked potentials (VEP). PATIENTS AND METHODS The VEPs were elicited...

PURPOSE To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported. METHODS Three affected family members were screened for mutations in tyrosinase (TYR) and the pink-eye-dilution gene (P) by using SSCP. The melanocortin receptor gene (MC1R) and amplimers of P showing an aberrant banding patter...

CONTEXT Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE To describe clinical and laboratory findings from CHS patients. DESIGN Case report. SETTING The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care ...

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...

A subject with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA) also had a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). This observation provides evidence for a possible gene locus in the q31 region of chromosome 2 or 4.