Scheie Eye Institute; and.
The Center for Advanced Retinal and Ocular Therapeutics, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania.
Retin Cases Brief Rep. 2023 Jul 1;17(4):352-358. doi: 10.1097/ICB.0000000000001208. Epub 2021 Nov 17.
To describe in detail the structural and functional phenotypes of a patient with cone-rod dystrophy associated with a full deletion of the NPHP1 gene.
A 30-year-old man with a history of end-stage renal disease presented with progressive vision loss in early adulthood prompting evaluation for retinal disease. Ophthalmic evaluation was performed including visual fields, electroretinography, spectral domain optical coherence tomography and short-wavelength and near-infrared fundus autofluorescence imaging.
The visual acuity was 20/60 in each eye. Fundus examination revealed a subtle bull's-eye maculopathy confirmed with fundus autofluorescence. Spectral domain optical coherence tomography demonstrated perifoveal loss of the outer retinal layers with structural preservation further peripherally. Static perimetry confirmed the loss of cone greater than rod sensitivities in a manner that colocalized to structural findings. Electroretinography revealed decreased cone- and rod-mediated responses. Genetic testing confirmed a homozygous whole-gene deletion of the NPHP1 gene.
NPHP1 -associated retinal degeneration may present as a cone-rod dystrophy in addition to the previously reported rod-predominant phenotypes and can notably be associated with systemic abnormalities, including renal disease. Our work further expands on the growing literature describing the retinal disease associated with systemic ciliopathies.
详细描述一位 Cone-Rod 营养不良患者的结构和功能表型，该患者与 NPHP1 基因完全缺失相关。
一位 30 岁男性，有终末期肾病病史，在成年早期出现进行性视力丧失，促使对视网膜疾病进行评估。进行了眼科评估，包括视野、视网膜电图、谱域光学相干断层扫描以及短波和近红外眼底自发荧光成像。
双眼视力分别为 20/60。眼底检查显示轻微的牛眼黄斑病变，眼底自发荧光证实。谱域光学相干断层扫描显示中心凹周围的外视网膜层结构保存，但有损失。静态视野检查证实了与结构发现相吻合的锥体细胞和视杆细胞敏感性丧失。视网膜电图显示锥体细胞和视杆细胞介导的反应降低。基因检测证实 NPHP1 基因的纯合全基因缺失。
NPHP1 相关的视网膜变性除了先前报道的以视杆细胞为主的表型外，还可能表现为 Cone-Rod 营养不良，并且可能显著与包括肾脏疾病在内的全身异常相关。我们的工作进一步扩展了关于与全身纤毛病相关的视网膜疾病的不断增长的文献。
