Literature DB >> 12702061

Oculocutaneous albinism.

J F Okulicz1, R S Shah, R A Schwartz, C K Janniger.   

Abstract

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 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.

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Year:  2003        PMID: 12702061     DOI: 10.1046/j.1468-3083.2003.00767.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN: 0926-9959            Impact factor:   6.166


  15 in total

Review 1.  [Photocarcinogenesis-molecular mechanisms and practical relevance].

Authors:  M Mengoni; T Tüting; E Gaffal
Journal:  Hautarzt       Date:  2021-01       Impact factor: 0.751

2.  Amelanotic Ciliochoroidal Melanoma in a Patient with Oculocutaneous Albinism.

Authors:  Meera D Sivalingam; Lauren A Dalvin; Carol L Shields; Arman Mashayekhi; Jerry A Shields
Journal:  Ocul Oncol Pathol       Date:  2018-09-03

3.  Quality of life in patients with oculocutaneous albinism.

Authors:  Marcus Maia; Beatrice Mussio Fornazier Volpini; Gabriela Alves dos Santos; Maria Josefa Penon Rujula
Journal:  An Bras Dermatol       Date:  2015 Jul-Aug       Impact factor: 1.896

Review 4.  [Oculocutaneous and ocular albinism].

Authors:  A S Kubasch; M Meurer
Journal:  Hautarzt       Date:  2017-11       Impact factor: 0.751

5.  Blood serum retinol levels in Asinara white donkeys reflect albinism-induced metabolic adaptation to photoperiod at Mediterranean latitudes.

Authors:  Maria Grazia Cappai; Maria Grazia Antonietta Lunesu; Francesca Accioni; Massimo Liscia; Mauro Pusceddu; Lucia Burrai; Maria Nieddu; Corrado Dimauro; Gianpiero Boatto; Walter Pinna
Journal:  Ecol Evol       Date:  2016-12-20       Impact factor: 2.912

6.  The metabolic profile of Asinara (albino) and Sardo donkeys (pigmented) (Equus asinus L., 1758) points to unequivocal breed assignment of individuals.

Authors:  Maria Grazia Cappai; Corrado Dimauro; Giovanni Paolo Biggio; Raffaele Cherchi; Francesca Accioni; Flavia Pudda; Gianpiero Boatto; Walter Pinna
Journal:  PeerJ       Date:  2020-07-08       Impact factor: 2.984

7.  Lack of adequate sun protection for children with oculocutaneous albinism in South Africa.

Authors:  Patricia M Lund; Julie S Taylor
Journal:  BMC Public Health       Date:  2008-06-30       Impact factor: 3.295

8.  L-DOPA is an endogenous ligand for OA1.

Authors:  Vanessa M Lopez; Christina L Decatur; W Daniel Stamer; Ronald M Lynch; Brian S McKay
Journal:  PLoS Biol       Date:  2008-09-30       Impact factor: 8.029

9.  Nano-scale morphology of melanosomes revealed by small-angle X-ray scattering.

Authors:  Thomas Gorniak; Tamas Haraszti; Vasyl M Garamus; Andreas R Buck; Tobias Senkbeil; Marius Priebe; Adam Hedberg-Buenz; Demelza Koehn; Tim Salditt; Michael Grunze; Michael G Anderson; Axel Rosenhahn
Journal:  PLoS One       Date:  2014-03-12       Impact factor: 3.240

10.  A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism.

Authors:  Michiko Miki; Makiko Miyamoto; Tatsuma Mitsutsuji; Hiroko Watanabe; Kazuhiro Shimizu; Junko Matsuo; Masahiro Tonari; Teruyo Kida; Jun Sugasawa; Tsunehiko Ikeda
Journal:  Case Rep Ophthalmol       Date:  2016-05-10
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