Perrault Isabelle, Hanein Sylvain, Gerber Sylvie, Barbet Fabienne, Ducroq Dominique, Dollfus Helene, Hamel Christian, Dufier Jean-Louis, Munnich Arnold, Kaplan Josseline, Rozet Jean-Michel
Unite de Recherches sur les Handicaps Genetiques de l'Enfant, Hopital Necker-Enfants Malades, Paris, France.
Am J Hum Genet. 2004 Oct;75(4):639-46. doi: 10.1086/424889. Epub 2004 Aug 20.
Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been mapped, and seven of these have been identified. Because some of these genes are involved in the visual cycle, we regarded the retinal pigment epithelium and photoreceptor-specific retinal dehydrogenase (RDH) genes as candidate genes in LCA. Studying a series of 110 unrelated patients with LCA, we found mutations in the photoreceptor-specific RDH12 gene in a significant subset of patients (4.1%). Interestingly, all patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia.
莱伯先天性黑蒙（LCA）是所有遗传性视网膜营养不良中最早发病且最严重的一种形式，是导致先天性失明的原因。已定位了10个LCA基因，其中7个已被鉴定出来。由于这些基因中的一些参与视觉循环，我们将视网膜色素上皮和光感受器特异性视网膜脱氢酶（RDH）基因视为LCA的候选基因。在对110例无亲缘关系的LCA患者进行的一系列研究中，我们在相当一部分患者（4.1%）中发现了光感受器特异性RDH12基因的突变。有趣的是，所有携带RDH12突变的患者都患有严重但进行性的视杆-视锥营养不良，并伴有严重的黄斑萎缩，但没有或仅有轻度远视。
