Oculocutaneous albinism type 2
نویسنده
چکیده
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 albinism. The etiology, clinical manifestations, diagnosis, and management are discussed.
منابع مشابه
A Unique Albino Village of Bhatti Tribe in Rural Sindh, Pakistan, with Oculocutaneous albinism Manifestations: An Epidemiological Study
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...
متن کاملMutational Analysis of Oculocutaneous Albinism: A Compact Review
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...
متن کاملOCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.
To the Editor : Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin and hair (1). On the basis of its clinical presentation, OCA can manifest in either isolated or syndromic fashion under a variety of inheritance models (1). To date, four loci have been mapped for recessively inherited isolated OCA, and genes for all of th...
متن کاملChildhood autism in a 13 year old boy with oculocutaneous albinism: a case report
INTRODUCTION Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compa...
متن کاملGenetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family
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...
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