Milibari Doaa, Magliyah Moustafa, Semidey Valmore A, Schatz Patrik, ALBalawi Hani B
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
Department of Ophthalmology, King Abdullah Medical City, Makkah 56757, Saudi Arabia.
Clin Pract. 2022 Jul 5;12(4):491-500. doi: 10.3390/clinpract12040053.
Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP.
单侧视网膜色素变性（URP）是一种罕见的视网膜营养不良。我们描述了两名经基因检测确诊为单侧视网膜色素变性（URP）的患者的临床病程，提示睫状肌功能障碍。方法：本研究采用的方法包括详细的眼科检查、多模式视网膜成像、Goldmann视野检查、全视野视网膜电图（ffERG）和靶向二代测序。结果：一名32岁女性（患者1）和一名65岁男性（患者2）被诊断为URP。ffERG显示患者1患眼无记录反应，对侧眼反应在正常范围内，而患者2明显未受影响的眼无记录反应，患眼光适应和暗适应反应显著降低。二代测序显示患者1的AGBL5基因存在新的复合杂合变异c.373 C>T（p.Arg125Trp）和c.730-22_730-19dup，患者2存在新的半合子变异c.1286 C>T（p.Pro429Leu）；两种基因突变率均为0%。两种突变均无法进行分离分析。结论：本报告扩展了URP的临床和分子遗传学谱。
