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编码鸟苷酸环化酶活化蛋白1的guca1a基因发生突变引起视锥细胞、视锥细胞-视杆细胞及黄斑营养不良

世界核心医学期刊文摘(眼科学分册) 2006年第2期 60-61页

作者： Michaelides M Wilkie S.E Jenkins S. A.R. Webster 白芳 Institute of Ophthalmology University College London 11- 43 Bath Street London EC1V 9EL United Kingdom Dr.

Purpose: To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 4- generation family and to examine the phenotype and the degree of intrafamilial variability. Design: Prospective case series. Participants: Six affected individuals from a nonconsanguineous British family. Methods: Detailed ophthalmologic examination, color fundus photography, autofluorescence imaging, and electrophysiologic assessment were performed. Blood samples were taken for DNA extraction, and mutation screening of guca1a, the gene encoding guanylate cyclase-activating protein 1 (GCAP1), was undertaken. Results: All affected subjects complained of mild photophobia and reduced central and color vision. Onset was between the third and fifth decade, with subsequent gradual deterioration of visual acuity and color vision. Visual acuity ranged between 6/9 and counting fingers. Color vision was either absent or markedly reduced along all 3 color axes. A range of macular appearances was seen, varying from mild retinal pigment epithelial disturbance to extensive atrophy. Electrophysiologic testing revealed a range of electrophysiologic abnormalities: isolated cone electroretinography abnormalities, reduced cone and rod responses (with cone loss greater than rod), and isolated macular dysfunction. The 4 coding exons of guca1a were screened for mutations in affected and unaffected family members. A single transition, A319G, causing a nonconservative missense substitution, Tyr99Cys, segregated uniquely in all affected subjects. Conclusions: The Tyr99Cys guca1a mutation has been previously shown to cause autosomal dominant progressive cone dystrophy. This is the first report of this mutation also causing both cone-rod dystrophy and isolated macular dysfunction. The phenotypic variation described here exemplifies the intrafamilial heterogeneity of retinal dysfunction that can be observed in persons harboring the same mutation and chromosomal segment.

关键词：黄斑营养不良视锥细胞 guca1a 视杆细胞活化蛋白鸟苷酸环化酶编码基因

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