دورية أكاديمية
Leprel1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome
| العنوان: | Leprel1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome |
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| المؤلفون: | 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. |
| المصدر: | Retina; 43(3), pp 498-505 (2023) ; ISSN: 0275-004X |
| بيانات النشر: | Lippincott Williams & Wilkins |
| سنة النشر: | 2023 |
| المجموعة: | Lund University Publications (LUP) |
| مصطلحات موضوعية: | Ophthalmology, giant retinal tear, hematuria, lens subluxation, LEPREL1, myopia, nephropathy, proteinuria, rhegmatogenous retinal detachment, stickler syndrome |
| الوصف: | Purpose: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.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results: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%).Conclusion: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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://lup.lub.lu.se/record/e0e40e9d-8090-4f6f-9420-bd304d54b45cTest; http://dx.doi.org/10.1097/IAE.0000000000003691Test; scopus:85148679351; pmid:36729830 |
| DOI: | 10.1097/IAE.0000000000003691 |
| الإتاحة: | https://doi.org/10.1097/IAE.0000000000003691Test https://lup.lub.lu.se/record/e0e40e9d-8090-4f6f-9420-bd304d54b45cTest |
| رقم الانضمام: | edsbas.7AF5475E |
| قاعدة البيانات: | BASE |
| DOI: | 10.1097/IAE.0000000000003691 |
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