دورية أكاديمية
RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History
| العنوان: | RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History |
|---|---|
| المؤلفون: | Georgiou, Michalis, Robson, Anthony G, Jovanovic, Katarina, Cabral de Guimarães, Thales Antônio, Ali, Naser, Pontikos, Nikolas, Uwaydat, Sami H, Mahroo, Omar A, Cheetham, Michael E, Webster, Andrew R, Hardcastle, Alison J, Michaelides, Michel |
| المصدر: | Ophthalmology (2022) (In press). |
| بيانات النشر: | Elsevier BV |
| سنة النشر: | 2022 |
| المجموعة: | University College London: UCL Discovery |
| مصطلحات موضوعية: | Genetics, Genotyping, Inherited Retinal Diseases, Phenotyping, RP2, Retinitis Pigmentosa, Retinopathy |
| الوصف: | PURPOSE: To review and describe in detail the clinical course, functional and anatomical characteristics of RP2-associated retinal degeneration. DESIGN: Retrospective case series. PARTICIPANTS: Males with disease-causing variants in the RP2 gene. METHODS: Review of all case notes and results of molecular genetic testing, retinal imaging (fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT)) and electrophysiology assessment. MAIN OUTCOME MEASURES: Molecular genetic testing, clinical findings including best-corrected visual acuity (BCVA), qualitative and quantitative retinal imaging analysis, and electrophysiology parameters. RESULTS: Fifty-four molecularly confirmed patients were identified, from 38 pedigrees. Twenty-eight disease-causing variants were identified; with 20 not previously clinically characterized. Fifty-three patients (98.1%) presented with retinitis pigmentosa. The mean age of onset (range, ±SD) was 9.6 years of age (1-57 years, ± 9.2 years). Forty-four patients (91.7%) had childhood-onset disease, with mean age of onset of 7.6 years. The commonest first symptom was night blindness (68.8%). Mean BCVA (range, ±SD) was 0.91 LogMAR (0-2.7, ±0.80) and 0.94 LogMAR (0-2.7, ±0.78) for right and left eyes respectively. Based on the WHO visual impairment criteria, 18 patients (34%) had low vision. The majority (17/22) showed ERG evidence of a rod-cone dystrophy. Pattern ERG P50 was undetectable in all but 2 patients. A range of FAF findings was observed, from normal to advanced atrophy. There were no statistically significant differences between right and left eyes for ellipsoid zone (EZ) width and outer nuclear layer (ONL) thickness. The mean annual rate of EZ width loss was 219 μm/year and the mean annual decrease in ONL thickness was 4.93 μm/year. No patient with childhood-onset disease had identifiable EZ after the age of 26 years at baseline or follow-up. Four patients had adulthood-onset disease and a less severe phenotype. CONCLUSIONS: This study details the clinical phenotype ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | text |
| اللغة: | English |
| العلاقة: | https://discovery.ucl.ac.uk/id/eprint/10160797/1/1-s2.0-S0161642022009162-main%20%281%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10160797Test/ |
| الإتاحة: | https://discovery.ucl.ac.uk/id/eprint/10160797/1/1-s2.0-S0161642022009162-main%20%281%29.pdfTest https://discovery.ucl.ac.uk/id/eprint/10160797Test/ |
| حقوق: | open |
| رقم الانضمام: | edsbas.5028A9C1 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |