Arveiler Benoit, Lasseaux Eulalie, Morice-Picard Fanny
CHU de Bordeaux, service de génétique médicale, 33076 Bordeaux, France; Laboratoire maladies rares, génétique et métabolisme, Inserm U1211, 33076 Bordeaux, France.
CHU de Bordeaux, service de génétique médicale, 33076 Bordeaux, France.
Presse Med. 2017 Jul-Aug;46(7-8 Pt 1):648-654. doi: 10.1016/j.lpm.2017.05.020. Epub 2017 Jul 19.
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.
白化病是一种影响全球1/17000人口的遗传性疾病。它是继视神经萎缩后导致先天性视力丧失的第二大原因。白化病在临床和基因层面均具有异质性。其特征为眼部发育异常以及不同程度的色素减退。临床上，该疾病有三种类型：眼皮肤型、眼型和综合征型（Hermansky-Pudlak综合征、Chediak-Higashi综合征）。迄今为止，已发现19个基因与不同类型的白化病有关。不同类型之间以及特定类型内部广泛的表型变异性使得建立表型-基因型相关性变得不可能。进行一项检测所有19个基因的基因检测对于确诊以及区分综合征型和非综合征型至关重要。我们介绍了在波尔多大学医院创建一家白化病专科日间医院的情况。
