Background: Oculocutaneous albinism is a disease with an autosomal recessive inheritance pattern in most cases. People with Oculocutaneous albinism face many health, psychological and financial issues. In this study, we report a unique village of Bhatti tribe in Jacobabad District, Pakistan, in which 40 children and adults with albinism live. The aim of this study was to observe the patte...

Tyrosinase is a type I membrane glycoprotein whose activity is essential for melanin synthesis. Loss of function mutations in tyrosinase is the cause of oculocutaneous albinism 1. In the milder oculocutaneous albinism 1B form in which mutant proteins retain residual activity, the severity of albinism depends on the type of mutations expressed in the melanocyte. In this study, we show that coexp...

BACKGROUND Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. METHODS Clinical exams and paraclinical test were performed for all patients of the case family, also...

CLINICAL CASE A 35-year-old female patient with blurred vision since childhood, for which no treatment had been given, presented with poor visual acuity. She had white skin and fair yellow hair. There were several well circumscribed deposits in the central and anterior corneal stroma, and iris transillumination and foveal hypoplasia were evident. The clinical diagnosis was oculo-cutaneous albin...

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...

Oculocutaneous albinism is an autosomal recessive disorder. It is associated with a disorder in the synthesis of melanin pigment, clearly manifested by the absence of colour in the skin, iris, and hair. In addition to its importance for a person's physical appearance, melanin plays a protective role with regard to solar radiation: its absence exposes the skin to a greater risk of related photog...

BACKGROUND Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are a...

A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

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,...

Mutations of genes needed for melanocyte function can result in oculocutaneous albinism. Examination of similarities in human gene expression patterns by using microarray analysis reveals that RAB38, a small GTP binding protein, demonstrates a similar expression profile to melanocytic genes. Comparative genomic analysis localizes human RAB38 to the mouse chocolate (cht) locus. A G146T mutation ...