Magliyah Moustafa S, Almarek Faisal, Nowilaty Sawsan R, Al-Abdi Lama, Alkuraya Fowzan S, Alowain Mohammed, Schatz Patrik, Alfaadhel Talal, Khan Arif O, Alsulaiman Sulaiman M
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Department of Ophthalmology, Prince Mohammed Medical City, AlJouf, Saudi Arabia.
Retina. 2023 Mar 1;43(3):498-505. doi: 10.1097/IAE.0000000000003691.
To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.
Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.
10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%).
LEPREL1 -related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.
描述携带LEPREL1基因新致病变异患者的视网膜脱离和高度近视特征，并报告其与肾病的可能关联。
对10例携带双等位基因LEPREL1致病变异的儿童进行回顾性研究。数据包括眼科特征、手术干预以及基因和实验室检查结果。
纳入来自三个家庭的10例患者（8名女性），其LEPREL1基因存在纯合（2例）或复合杂合（1例）变异。就诊时，平均年龄为9.9±2.6岁。平均眼轴长度为28.9±1.9mm，平均屈光度为-13.9±2.8D。8例患者（80%）存在双侧后囊下白内障，3例患者的5只眼（30%）出现晶状体半脱位。5例患者的7只眼（50%）发生了与巨大视网膜裂孔相关的孔源性视网膜脱离（RRD），平均发病年龄为14.14±5.9岁。6只眼成功复位，最后一次随访时平均Snellen最佳矫正视力从术前的20/120提高到20/60。9例患者的尿液分析显示，6例患者（67%）存在镜下血尿和/或轻度蛋白尿。
LEPREL1相关的高度近视具有早期发生与巨大视网膜裂孔相关的RRD的高风险。如果不进行基因检测，眼部表型可能与眼型Stickler综合征混淆。有必要进一步研究其与肾功能障碍的潜在关联。
