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SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization
Juan C Romo-Aguas1, Yannik Laich2, Angelos Kalitzeos1
1From the UCL Institute of Ophthalmology (J.C.R.A., Y.L., A.K., T.A.C.D.G, A.G.R., K.F., Y.F.Y., M.G., O.A.M., A.R.W., M.M.), University College London, London, UK; Moorfields Eye Hospital NHS Foundation Trust (J.C.R.A., Y.L., A.K., T.A.C.D.G, A.G.R., K.F., O.A.M., A.R.W., M.M.), London, UK.
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.
