期刊
OPHTHALMOLOGY
卷 130, 期 4, 页码 413-422出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ophtha.2022.11.015
关键词
Genetics; Genotyping; Inherited retinal diseases; Phenotyping; Retinitis Pigmentosa; Retinopathy; RP2
The study reviews and describes the clinical course, functional and anatomic characteristics of RP2-associated retinal degeneration. The majority of patients presented with early-onset severe retinal degeneration, early macular involvement, and complete loss of the foveal photoreceptor layer by the third decade of life. Full-field ERGs revealed rod-cone dystrophy in the vast majority, but with generalized (peripheral) cone system involvement of widely varying severity in the first 2 decades of life.
Purpose: To review and describe in detail the clinical course, functional and anatomic characteristics of RP2- associated retinal degeneration. Design: Retrospective case series. Participants: Male participants with disease-causing variants in the RP2 gene. Methods: Review of all case notes and results of molecular genetic testing, retinal imaging (fundus auto-fluorescence [FAF] imaging, 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 + standard deviation [SD]) was 9.6 years (1-57 + 9.2 years). Forty-four patients (91.7%) had childhood-onset disease, with mean age of onset of 7.6 years. The most common first symptom was night blindness (68.8%). Mean BCVA (range + SD) was 0.91 logarithm of the minimum angle of resolution (logMAR) (0-2.7 + 0.80) and 0.94 logMAR (0-2.7 + 0.78) for right and left eyes, respectively. On the basis of the World Health Organization visual impairment criteria, 18 patients (34%) had low vision. The majority (17/22) showed electroretinogram (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 sig-nificant differences between right and left eyes for ellipsoid zone width (EZW) and outer nuclear layer (ONL) thickness. The mean annual rate of EZW loss was 219 mm/year, and the mean annual decrease in ONL thickness was 4.93 mm/ year. No patient with childhood-onset disease had an identifiable ellipsoid zone (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 of RP2 retinopathy in a large cohort. The majority pre-sented with early-onset severe retinal degeneration, with early macular involvement and complete loss of the foveal photoreceptor layer by the third decade of life. Full-field ERGs revealed rod-cone dystrophy in the vast majority, but with generalized (peripheral) cone system involvement of widely varying severity in the first 2 decades of life. (c) 2022 by the American Academy of Ophthalmology. This is an open access article under the CC BY license
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