Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Ophthalmic Genet. 2021 Jun;42(3):349-353. doi: 10.1080/13816810.2021.1894460. Epub 2021 Mar 4.
: To report a case of initial cone dystrophy that advanced to a cone-rod dystrophy with homozygous variants in the gene.: Retinal structure and visual function assessments were performed using fundoscopy, spectral-domain optical coherence tomography, full field electroretinography, semi-kinetic perimetry, and Ishihara plate testing. A DNA sample was collected and sent for diagnostic molecular genetic testing with a cone-rod dystrophy panel.: Clinical examination and electroretinography confirmed a clinical diagnosis of cone dystrophy. Molecular genetic testing revealed homozygous variants in (c.1355 G > A, p.(Arg452Gln)). Follow-up three years later showed progression to a cone-rod dystrophy.: Our case describes an ophthalmological phenotype associated with a homozygous missense variant and provides clinical support for variant classification.
报告一例初始锥细胞营养不良，进展为伴有 基因纯合变异的锥杆细胞营养不良。：使用眼底镜、谱域光学相干断层扫描、全视野视网膜电图、半动态视野计和石原氏色盲检查对视网膜结构和视觉功能进行评估。采集 DNA 样本并进行诊断分子遗传学检测，使用锥杆细胞营养不良面板。：临床检查和视网膜电图确认临床诊断为锥细胞营养不良。分子遗传学检测显示 （c.1355G>A，p.（Arg452Gln））纯合变异。三年后随访显示进展为锥杆细胞营养不良。：本病例描述了一种与 错义变异纯合相关的眼科表型，并为变异分类提供了临床支持。
