锥棒营养不良PCARE相关性视网膜病变
{"_":"Cone-Rod Dystrophy -Associated Retinopathy.","i":["PCARE"]}
摘要(中文译文)
双等位基因致病性变异位于基因（），也称为（），通常与54型视网膜色素变性（RP54）相关，较少见地与视锥-视杆细胞营养不良（CORD23）相关。一名52岁男性，表现为进行性视力下降八年，无畏光或夜盲。他接受了全面的眼科评估，包括多模式视网膜成像、自动视野检查和完整的电生理测试，均按照国际临床视觉电生理学会（ISCEV）的标准进行。基因检测采用下一代测序（NGS）结合遗传性视网膜营养不良基因panel，结果经Sanger测序确认。临床检查显示双侧黄斑萎缩伴最小中心凹保留及中心暗点。光学相干断层扫描（OCT）显示外层视网膜层破坏和视网膜色素上皮（RPE）异常。眼底自发荧光（FAF）显示中心低自发荧光，周围环绕高自发荧光环。电生理测试显示全视野视网膜电图（ERG）中视杆和视锥介导的反应严重降低，图形ERG反应缺失，多焦ERG反应显著降低，表明广泛的视网膜功能障碍伴显著黄斑受累。基因分析鉴定出基因中的纯合致病性无义变异[c.3289C>T; p.(Gln1097*)]，确认了常染色体隐性遗传性视网膜营养不良的诊断。双等位基因变异可导致晚发性严重视网膜营养不良，以黄斑受累为主和视锥-视杆功能障碍。鉴于其与其他遗传性视网膜疾病表型重叠，准确诊断需要整合多模式视网膜成像、电生理测试和全面的基因分析。
Abstract
: Biallelic pathogenic variants in the gene (), also known as (), are typically associated with retinitis pigmentosa type 54 (RP54) and, less frequently, with cone-rod dystrophy (CORD23). : A 52-year-old man presented with an eight-year history of progressive visual loss, without photophobia or nyctalopia. He underwent a comprehensive ophthalmological evaluation, including multimodal retinal imaging, automated perimetry, and full electrophysiological testing, in accordance with International Society for Clinical Electrophysiology of Vision (ISCEV)'s standards. Genetic testing was performed using next-generation sequencing (NGS) with an inherited retinal dystrophy gene panel, and findings were confirmed by Sanger sequencing. Clinical examination revealed bilateral macular atrophy with minimal foveal sparing and a central scotoma. Optical coherence tomography (OCT) showed disruption of the outer retinal layers and retinal pigment epithelium (RPE) abnormalities. Fundus autofluorescence (FAF) demonstrated central hypoautofluorescence surrounded by a hyperautofluorescent ring. Electrophysiological testing revealed severely reduced rod- and cone- mediated responses on full-field electroretinography (ERG), absent pattern ERG responses, and markedly reduced multifocal ERG responses, indicating widespread retinal dysfunction with significant macular involvement. Genetic analysis identified a homozygous pathogenic nonsense variant in [c.3289C>T; p.(Gln1097*)], confirming the diagnosis of an autosomal recessive inherited retinal dystrophy. : Biallelic variants can cause late-onset severe retinal dystrophy, with predominant macular involvement and cone-rod dysfunction. Given its phenotypic overlap with other inherited retinal diseases, accurate diagnosis requires the integration of multimodal retinal imaging, electrophysiological testing, and comprehensive genetic analysis.
如何引用
AMA
Maria Sopena-Pinilla, Maria Arruebo-Muñio, Marta Arias-Alvarez, Maria Arcas-Carbonell, Pablo Tejada-González, Carmen Lahuerta-Pueyo, et al. {"_":"Cone-Rod Dystrophy -Associated Retinopathy.","i":["PCARE"]}. Diagnostics (Basel, Switzerland). 2026; doi:10.3390/diagnostics16131945.
APA
Maria Sopena-Pinilla, Maria Arruebo-Muñio, Marta Arias-Alvarez, Maria Arcas-Carbonell, Pablo Tejada-González, Carmen Lahuerta-Pueyo, et al (2026). {"_":"Cone-Rod Dystrophy -Associated Retinopathy.","i":["PCARE"]}. Diagnostics (Basel, Switzerland). https://doi.org/10.3390/diagnostics16131945
GB/T 7714
Maria Sopena-Pinilla, Maria Arruebo-Muñio, Marta Arias-Alvarez, Maria Arcas-Carbonell, Pablo Tejada-González, Carmen Lahuerta-Pueyo, et al. {"_":"Cone-Rod Dystrophy -Associated Retinopathy.","i":["PCARE"]}[J]. Diagnostics (Basel, Switzerland), 2026 doi:10.3390/diagnostics16131945.
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