American journal of ophthalmology · 2025
SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.
СтатьяМногоцентровое исследованиеНаблюдательное исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Romo-Aguas Juan C, Laich Yannik, Kalitzeos Angelos, de Guimarāes Thales A C, Robson Anthony G, Fujinami Kaoru, Fujinami-Yokokawa Yu, Georgiou Michalis, Di Piero Eduardo, Mahroo Omar A, Webster Andrew R, Michaelides Michel
Аннотация
PURPOSE: To analyze the clinical spectrum and natural history of SNRNP200-associated retinopathy.
DESIGN: Multicenter retrospective, observational cohort study.
PATIENTS: Molecularly confirmed patients with at least 1 disease-causing variant in SNRNP200.
METHODS: Clinical data was extracted from the physical and electronic records, including imaging and electrophysiology. Genetic results were reviewed, and the variants assessed.
MAIN OUTCOME MEASURES: Molecular genetic testing and clinical findings, including best-corrected visual acuity (BCVA), qualitative and quantitative analysis of retinal imaging, and electrophysiology.
RESULTS: Thirty-four patients from 4 countries were identified and assessed longitudinally. The median age was 36.0 years (IQR 27.5-43.5), with a median follow-up of 6.0 years (IQR 2-9.5). Median BCVA was 0.0 LogMAR (IQR 0.0-0.27) at baseline and 0.1 LogMAR (0.0-0.47) at follow-up, with an annual rate of decline of 0.021 LogMAR. The median ellipsoid zone width was 3013.5 µm (IQR 1948.7-3592.2) at baseline and 2400.1 µm (IQR 1136.75-3097.2) at follow-up, with a rate of decline of 21.9 µm/year. Detailed electrophysiology was available for 11 patients, all of whom showed a rod-cone dystrophy with largely preserved macular function in the majority of cases. Genetic analysis identified 21 variants in SNRNP200, including 11 novel variants.
CONCLUSIONS: This report represents the largest cohort of patients with SNRNP200-associated retinopathy, with the longest follow-up. Longitudinal analysis shows a preserved central retina until the 6th decade of life. These findings provide critical insights for patient counselling, identifying clinical endpoints, and guiding therapeutic development.
DESIGN: Multicenter retrospective, observational cohort study.
PATIENTS: Molecularly confirmed patients with at least 1 disease-causing variant in SNRNP200.
METHODS: Clinical data was extracted from the physical and electronic records, including imaging and electrophysiology. Genetic results were reviewed, and the variants assessed.
MAIN OUTCOME MEASURES: Molecular genetic testing and clinical findings, including best-corrected visual acuity (BCVA), qualitative and quantitative analysis of retinal imaging, and electrophysiology.
RESULTS: Thirty-four patients from 4 countries were identified and assessed longitudinally. The median age was 36.0 years (IQR 27.5-43.5), with a median follow-up of 6.0 years (IQR 2-9.5). Median BCVA was 0.0 LogMAR (IQR 0.0-0.27) at baseline and 0.1 LogMAR (0.0-0.47) at follow-up, with an annual rate of decline of 0.021 LogMAR. The median ellipsoid zone width was 3013.5 µm (IQR 1948.7-3592.2) at baseline and 2400.1 µm (IQR 1136.75-3097.2) at follow-up, with a rate of decline of 21.9 µm/year. Detailed electrophysiology was available for 11 patients, all of whom showed a rod-cone dystrophy with largely preserved macular function in the majority of cases. Genetic analysis identified 21 variants in SNRNP200, including 11 novel variants.
CONCLUSIONS: This report represents the largest cohort of patients with SNRNP200-associated retinopathy, with the longest follow-up. Longitudinal analysis shows a preserved central retina until the 6th decade of life. These findings provide critical insights for patient counselling, identifying clinical endpoints, and guiding therapeutic development.