The array of clinical albinism subtypes

Purpose: To illustrate the different types of clinical subtypes of albinism. Methods: A systematic overview of the different clinical subtypes of albinism will be given. The relationship between the different phenotypes and their respective genotypes will be explained. Results: In general, a distinc...

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Bibliographic Details
Published inActa ophthalmologica (Oxford, England) Vol. 92; no. s253
Main Author LEROY, BP
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.09.2014
Wiley Subscription Services, Inc
Subjects
Albinism
Ophthalmology
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Summary:Purpose: To illustrate the different types of clinical subtypes of albinism. Methods: A systematic overview of the different clinical subtypes of albinism will be given. The relationship between the different phenotypes and their respective genotypes will be explained. Results: In general, a distinction is made between ocular albinism and oculocutaneous albinism. The latter can be isolated or syndromic. Examples of syndromic albinism include the Hermansky‐Pudlak and Chediak‐Higashi syndromes. Conclusions: Ocular and oculocutaneous types of albinism exist. The latter can isolated or can be part of syndromic oculocutaneous albinism.
ISSN:1755-375X
1755-3768
DOI:10.1111/j.1755-3768.2014.2662.x