Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease.
Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease.
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DOI：
10.1076/opge.20.2.71.2287
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发表时间：
1999-06-01
影响因子：
1.2
通讯作者：
Zhang, K
中科院分区：
文献类型：
--
作者：
Kniazeva, M F;Chiang, M F;Zhang, K
视锥细胞营养不良 (CORD) 和斯塔加特病 (STGD) 是两种遗传性视网膜营养不良，与年龄相关性黄斑变性相似。视锥细胞营养不良是一组退行性疾病，导致视力和色觉下降、视网膜电图 (ERG) 反应减弱和黄斑萎缩病变。常染色体显性、常染色体隐性和 X 连锁形式的锥杆营养不良已有报道。 Stargardt 病的特征是视力下降、黄斑萎缩、后视网膜色素上皮中明显的“黄斑斑点”以及荧光素血管造影上几乎病理性的“暗脉络膜”图案。 Stargardt 病通常作为常染色体隐性遗传，尽管已经描述了许多家族，其中 Stargardt 病的特征以常染色体显性方式传播。我们发现了一种患有常染色体显性锥杆营养不良症的新亲属，其特征为 Stargardt 样疾病。进行了详细的临床评估、基因型分析和连锁分析。荧光素血管造影显示三名受影响受试者的“暗脉络膜”模式。视网膜电图显示三名受影响个体的暗视和明视反应显着降低。遗传分析揭示了与染色体 6q14 上已知的锥杆营养不良 (CORD7) 和 Stargardt 样疾病 (STGD3) 位点的关联。使用标记 D6S280 在直角 theta = 0.010 处获得 3.3 的峰值 lod 分数。通过筛选该区域具有短串联重复标记的 YAC 文库来构建物理图谱。对候选基因（GABA 受体的 rho1 亚基）的筛选未能发现任何突变。
Cone-rod dystrophy (CORD) and Stargardt disease (STGD) are two hereditary retinal dystrophies with similarities to age-related macular degeneration. Cone-rod dystrophies are a group of degenerative disorders resulting in decreased visual acuity and color vision, attenuated electroretinographic (ERG) responses, and atrophic macular lesions. Autosomal dominant, autosomal recessive, and X-linked forms of cone-rod dystrophy have been reported. Stargardt disease is characterized by reduced visual acuity, atrophic macular changes, prominent 'flavimaculatus flecks' in the pigment epithelium of the posterior retina, and a virtually pathognomic 'dark choroid' pattern on fluorescein angiography. Stargardt disease is classically inherited as an autosomal recessive trait, although numerous families have been described in which features of Stargardt disease are transmitted in an autosomal dominant manner. We have identified a new kindred with autosomal dominant cone-rod dystrophy with features of Stargardt-like disease. Detailed clinical evaluation, genotype analysis, and linkage analysis were performed. Fluorescein angiography revealed a 'dark choroid' pattern in three affected subjects. Electroretinography disclosed markedly reduced scotopic and photopic responses in three affected individuals. Genetic analysis revealed linkage to known loci for cone-rod dystrophy (CORD7) and Stargardt-like disease (STGD3) on chromosome 6q14. A peak lod score of 3.3 was obtained with the marker D6S280 at straight theta =0.010. A physical map was constructed by screening a YAC library with short tandem repeat markers in the region. Screening of a candidate gene, the rho1 subunit of the GABA receptor, failed to reveal any mutations.