Stargardt病:印度队列的临床特征和基因型

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Mythri K Rao, Ramya R Nadig, J Syed Ali Fathima Afrin, Sarangapani Sripriya, Porkodi Periasamy, Ramavath Sree Keerti, Muna Bhende
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引用次数: 0

摘要

在本报告中,我们描述了印度Stargardt病(STGD)队列的临床特征和基因变异谱。我们回顾了49例STGD患者的98只眼睛的医疗记录,这些患者接受了彩色眼底摄影、眼底自身荧光成像(FAF)、光学相干断层扫描(OCT)、全视野视网膜电图(FFERG)和NGS基因检测。人口学资料、临床特征、FAF、OCT、FFERG特征和基因型分析是主要的结局指标。发病和发病的中位年龄分别为14岁(范围5-49岁)和22岁(范围6-55岁)。中位BCVA为0.7 logMAR(范围:0-1.8 logMAR)。较低的BCVA与街机外出现斑点、中央中央凹厚度(CFT)明显降低、暗位和光位FFERG反应减少(III型)以及后极多处低FAF信号区和异质性背景(III型)相关。病程延长与III型FAF信号和III型ERG反应相关。ABCA4基因突变44例(bbb80 %);其中1人有PROM1、CNGB3和PDE6A/TULP1变异,2人没有已知的变异。两种复发变异体(C . 5882g >A和C .859- 9t >C)各有8例,患者发病较晚。与其他人群相比,大多数患者报告的年龄更小。FAF分类、CFT和FFERG模式与病程和BCVA相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort.

In this report, we describe the clinical features and spectrum of gene variants of an Indian cohort with Stargardt disease (STGD). We reviewed the medical records of 98 eyes of 49 patients with STGD who underwent colour fundus photography, fundus autofluorescence imaging (FAF), optical coherence tomography (OCT), full-field electroretinography (FFERG) and genetic testing using an NGS panel. Demographic data, clinical features, FAF, OCT, FFERG characteristics, and genotype analysis were the main outcome measures. The median age at onset and presentation was when the patients were 14 years (Range: 5-49 years) and 22 years (Range: 6-55 years) old, respectively. Median BCVA was 0.7 logMAR (Range: 0-1.8 logMAR). Lower BCVA was associated with the presence of flecks outside the arcade, significantly lower central foveal thickness (CFT), reduced scotopic and photopic FFERG response (Type III) and multiple areas of low FAF signal at the posterior pole with a heterogeneous background (Type III). Longer disease duration was associated with Type III FAF signal and Type III ERG response. ABCA4 gene mutation was seen in 44 (> 80%) patients; 1 each had PROM1, CNGB3, and PDE6A/TULP1 variants, and 2 had no known variants. Later onset of the disease was noted in patients with 2 recurrent variants (c.5882G>A and c.859-9T>C) detected in 8 patients each. Most patients reported at a younger age compared to other populations. FAF categories, CFT, and FFERG patterns correlated with disease duration and BCVA.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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