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首页> 美国卫生研究院文献>Medical Hypothesis Discovery and Innovation in Ophthalmology >Intrafamilial Phenotype Variability in Two Male Siblings With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease
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Intrafamilial Phenotype Variability in Two Male Siblings With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease

机译：两名男性兄弟姐妹的家族内表型变异在该疾病的自然病史中伴有X-连锁青少年视网膜裂变和多佐胺治疗

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摘要

To investigate how genotype is related to phenotype and document correlations of genotype-phenotype with response of topical administration of dorzolamide in siblings affected with X-linked juvenile retinoschisis (XLRS). We performed a retrospective study on two male siblings (four eyes) with XLRS, who were treated with topical installation of dorzolamide. Clinical diagnosis was supported with familial genetic analysis with bi-directional Sanger sequencing of RS1 pathogenic variant. Optical coherence tomography (OCT), fundus fluorescein angiography (FFA), ultrasound scan (U/S) and electroretinogram (ERG) were used in the evaluation. Central macular thickness (CMT) and best corrected visual acuity (BCVA) were recorded monthly for eighteen months. We performed genetic analysis in their family for mutations in the gene that encodes the protein retinoschisin, responsible for retinoschisis (RS1). It was proved that phenotype variability might be related to the same pathogenic variant. While there was an improvement in BCVA and OCT central macular thickness in the patient with the mild form of disease, the visual acuity and the OCT scans of the patient with severe form of disease did not improve. Intrafamilial phenotypic variability between individuals sharing identical pathogenic variant was documented. Both our patients had a pathogenic variant in a hemizygous state at a genomic location in exon 6 of the RS1 gene; Frameshift mutation that is likely to cause protein truncation was identified which is suggested to result in greater clinical severity. Consequently, it was found that response to dorzolamide is correlated to phenotypic severity.
机译：调查基因型与表型之间的关系，并研究基因型-表型与多佐胺在局部受X连锁青少年视网膜裂变症（XLRS）影响的兄弟姐妹中局部给药反应的相关性。我们对两名患有XLRS的男性同胞（四只眼睛）进行了回顾性研究，这些患者接受了多佐胺的局部安装治疗。家族遗传分析和RS1病原体双向Sanger测序支持临床诊断。评估中使用了光学相干断层扫描（OCT），眼底荧光血管造影（FFA），超声扫描（U / S）和视网膜电图（ERG）。每月记录中央黄斑厚度（CMT）和最佳矫正视力（BCVA），持续18个月。我们对他们的家族进行了遗传分析，以发现编码视黄醛水解酶（RS1）的视黄醛水解酶蛋白基因的突变。已证明表型变异性可能与相同的致病变异有关。虽然轻度疾病患者的BCVA和OCT中心黄斑厚度有所改善，但严重疾病患者的视力和OCT扫描均未改善。共有相同病原体变异的个体之间的家族内表型变异被记录下来。我们的两名患者在RS1基因第6外显子的基因组位置均处于半合子状态。鉴定出可能导致蛋白质截短的移码突变，提示其导致更大的临床严重性。因此，发现对多佐胺的反应与表型严重性有关。

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