Leber's congenital amaurosis: an update

被引：38

作者：

Fazzi, E ^{[1
]}

Signorini, SG ^{[1
]}

Scelsa, B ^{[1
]}

Bova, SM ^{[1
]}

Lanzi, G ^{[1
]}

机构：

[1] Univ Pavia, Inst Neurol, IRCCS C Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2003年 / 7卷 / 01期

关键词：

Leber's congenital amaurosis; congenital blindness; mental retardation; stereotypic behaviours; systemic associations; genetics;

D O I：

10.1016/S1090-3798(02)00135-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.

引用

页码：13 / 22

页数：10

共 84 条

[31] De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis [J].