CEP78 gene mutation as the underlying cause of Cone-Rod Dystrophy associated with hearing loss and infertility

This case describes a 23-year-old male patient with no family history of retinal diseases who presented with progressive vision loss, photophobia, and reduced color perception. Over the course of eight years, his visual acuity deteriorated, with central and near vision becoming significantly impaired. Molecular testing revealed a mutation in the CEP78 gene, confirming a diagnosis of cone and rod dystrophy (CRD). Diagnostic imaging, including autofluorescence, Optical Coherence Tomography (OCT), and electroretinograms, showed characteristic retinal changes, including thinning of the nerve fiber layer and reduced photoreceptor function. Although the patient reported no auditory symptoms, auditory evoked potentials revealed bilateral abnormalities, and a semen analysis showed mild sperm motility and morphology issues, suggesting possible infertility. This case highlights the importance of CEP78 mutations in CRD, as well as their association with hearing loss and fertility issues, providing valuable insights for diagnosis and potential therapeutic approaches.

本病例报告一名23岁男性患者，无视网膜疾病家族史，以进行性视力下降、畏光及色觉减退为首发表现。随访八年间，患者视力持续恶化，中心视力与近视力显著受损。分子遗传学检测显示其CEP78基因存在突变，确诊为锥杆营养不良（cone and rod dystrophy, CRD）。包括自发荧光成像、光学相干断层扫描（Optical Coherence Tomography, OCT）及视网膜电图在内的诊断影像学检查，可见特征性视网膜改变，包括神经纤维层变薄与光感受器功能减退。尽管患者自述无听觉相关症状，但听觉诱发电位检测显示双侧听觉通路异常；精液分析提示精子活力与形态存在轻度异常，提示可能存在不育症。本病例凸显了CEP78基因突变在锥杆营养不良发病中的重要作用，及其与听力损失、生育功能异常的关联，为该病的诊断及潜在治疗策略提供了极具价值的参考依据。