Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene
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DOI：
10.1001/archopht.118.8.1098
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发表时间：
2000-08-01
影响因子：
--
通讯作者：
Sieving, PA
中科院分区：
文献类型：
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作者：
Eksandh, LC;Ponjavic, V;Sieving, PA
目的：目的：描述具有不同XLRS 1基因突变的幼年型X连锁视网膜劈裂症的临床表型。基因型由分子遗传学确定，其鉴定了6个已知突变和1个新突变（外显子5，489 G-->T）。眼科检查包括全视野视网膜电图（ERG）recording.Results：眼底的外观表现出显着的变化之间，以及在不同的XLRS 1突变的家庭。ERG显示B波振幅典型降低，A波相对保留，导致所有受影响雄性动物的B-A比值降低。30-Hz闪烁ERG的隐式时间在所有检查的患者中延长。在一个大的家庭与外显子1和启动子区的缺失，12个受影响的男性表现出的表型范围从中度到重度的视力障碍和广泛的ERG异常，这表明，其他因素可能有助于疾病的严重程度。结论：青少年视网膜劈裂症表现出广泛的变异性之间的表型，以及在家庭内具有不同的基因型。ERG的研究结果显示，减少B-A比的暗适应记录和延长隐式时间的30 Hz闪烁反应，这提供了一个有用的临床标记，以确认临床diagnosis.Clinical Relevance：本研究描述了广泛的变异性，在青少年视网膜劈裂症和不同的突变，XLRS 1基因的患者的表型。这项研究强调了补充眼科检查与全视野ERG和分子遗传学在男孩不明病因的视力障碍，以确定在疾病的早期诊断的重要性。
Objective: To describe the clinical phenotype of juvenile X-linked retinoschisis in patients with different mutations in the XLRS1 gene.Methods: Thirty patients with 7 different XLRS1 mutations were examined. The genotype was determined by molecular genetics, which identified 6 known and 1 novel mutation (exon 5, 489 G-->T). Ophthalmologic examination included full-field electroretinogram (ERG) recordings.Results: The fundus appearance showed marked variations between, as well as within, families with different XLRS1 mutations. The ERG demonstrated typical reduction of B-wave amplitude, with relative A-wave preservation, causing a reduced B-A ratio in all affected males. The implicit time of the 30-Hz flicker ERG was prolonged in all patients examined. In a large family with a deletion of exon 1 and the promoter region, 12 affected males showed a phenotype ranging from moderate to severe vision impairment and a broad range of ERG abnormality, suggesting that additional factors may contribute to the disease severity.Conclusions: Juvenile retinoschisis shows a wide variability in the phenotype between, as well as within, families with different genotypes. The ERG findings show reduced B-A ratios of dark-adapted recordings and prolonged implicit times of 30-Hz flicker response, which provide a useful clinical marker to confirm the clinical diagnosis.Clinical Relevance: This study describes the wide variability in the phenotype in patients with juvenile retinoschisis and different mutations in the,XLRS1 gene. The study emphasizes the importance of complementing the ophthalmologic examination with full-field ERG and molecular genetics in boys with visual failure of unknown etiology to determine the diagnosis early in the course of the disease.