Marlhens F, Griffoin J M, Bareil C, Arnaud B, Claustres M, Hamel C P
Laboratoire de Neurobiologie de l'Audition, Plasticité Synaptique, Hôpital Gui de Chauliac, Montpellier, France.
Eur J Hum Genet. 1998 Sep-Oct;6(5):527-31. doi: 10.1038/sj.ejhg.5200205.
Retinal dystrophies are a complex set of hereditary diseases of the retina that result in the degeneration of photoreceptors. Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-retinoid metabolism, a key process in vision, cause severe, early onset retinal dystrophy. We describe two novel missense RPE65 mutations, L22P and H68Y, in a compound heterozygote with autosomal recessive retinal dystrophy. The relatively mild phenotype associated with these mutations suggests a possible link between the severity of the disease and the type of mutations in the RPE65 gene.
视网膜营养不良是一组复杂的视网膜遗传性疾病，可导致光感受器退化。最近的研究表明，RPE65基因发生突变会导致严重的早发性视网膜营养不良，该基因编码一种视网膜色素上皮（RPE）特异性蛋白，被认为参与视觉的关键过程——11-顺式视黄醛代谢。我们在一名患有常染色体隐性视网膜营养不良的复合杂合子中描述了两个新的RPE65错义突变，即L22P和H68Y。与这些突变相关的相对较轻的表型表明，疾病的严重程度与RPE65基因中的突变类型之间可能存在联系。
