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Hermansky-Pudlak syndrome

[Clinical and genetic aspects of albinism].
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[Clinical and genetic aspects of albinism].

Presse Med. 2017 Jul - Aug;46(7-8 Pt 1):648-654

Authors: Arveiler B, Lasseaux E, Morice-Picard F

Abstract
Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. It is characterized by ocular development anomalies and by a variable degree of hypopigmentation. Clinically, three forms of the disease are described: oculocutaneous, ocular and syndromic (Hermansky-Pudlak syndrome, Chediak-Higashi syndrome). Nineteen genes involved in the different types of albinism have been described so far. The broad phenotypic variability between the different forms but also within a particular form renders the establishment of phenotype-genotype correlations impossible. A genetic test exploring all 19 genes is necessary to establish the diagnosis and to distinguish between syndromic and non-syndromic forms. We present the creation of an albinism-dedicated Day Hospital at the University Hospital of Bordeaux.

PMID: 28734636 [PubMed - indexed for MEDLINE]

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