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Master Thesis

Analyses démographiques, phénotypiques et génétiques d’une cohorte de 692 patients atteints d'albinisme

Abstract : Albinism is a group of disorders which associate visual impairment and cutaneous hypopigmentation. At the clinical level there are several entities: non syndromic albinism with 7 oculocutaneous (OCA 1-7) and one X-linked ocular (OA1) and syndromic albinism with Hermansky-Pudlak syndromes (HPS 1-10) and Chediak-Higashi syndrome (CHS). Albinism is genetically heterogeneous and caused by the presence of pathogenic variants in one of the 19 known genes. The mode of inheritance is autosomal recessive except for the X-linked ocular type. The aim of this work is to describe at the phenotypic level (dermatologic and ophthalmologic particularly) affected patients in order to define a phenotypic spectrum of different types of albinism. We describe 692 patients and we confirm that distribution in different types is in agreement with previous descriptions. Analysis of the pigmentation allows to highlight specificities of skin, hair and iris color according to the different types. It seems essential to analyse pigmentation of patients depending on the parents. Analysis of the ophthalmologic signs shows that the impairment is constant without differences between the different types of albinism. Finally, characteristic features of syndromic types are rarely found within this population essentially composed of young patients. These findings are compared to cohorts previously published and validity of the diagnostic criteria proposed by Kruijt et al. are tested. Phenotypic description of the different types of albinism allows defining precisely the signs frequently found in each type. We also note that oculocutaneous, ocular and syndromic types can display overlapping phenotypes and that one should talk about albinism in general terms.
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Master Thesis
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Contributor : Bu Carreire Université de Bordeaux <>
Submitted on : Thursday, May 9, 2019 - 6:56:10 PM
Last modification on : Thursday, April 30, 2020 - 10:45:21 AM


  • HAL Id : dumas-02124737, version 1



Vincent Michaud. Analyses démographiques, phénotypiques et génétiques d’une cohorte de 692 patients atteints d'albinisme. Médecine humaine et pathologie. 2019. ⟨dumas-02124737⟩



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