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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.
This study analyzed 34 patients with SNRNP200-associated retinopathy, revealing a slow decline in vision and retinal structure over time. Central retinal function remains largely preserved into the sixth decade of life.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- SNRNP200 mutations are linked to inherited retinal diseases.
- Understanding the clinical spectrum and natural history is crucial for patient management.
Purpose of the Study:
- To analyze the clinical spectrum and natural history of SNRNP200-associated retinopathy.
- To characterize visual acuity, retinal structure, and electrophysiological findings in affected individuals.
Main Methods:
- A multi-center retrospective, observational cohort study of 34 molecularly confirmed patients.
- Longitudinal data collection including best-corrected visual acuity (BCVA), retinal imaging, and electrophysiology.
- Genetic analysis to identify disease-causing variants in SNRNP200.
Main Results:
- Median BCVA showed a slow decline (0.021 LogMAR/year) over a median follow-up of 6 years.
- Ellipsoid zone width decreased by 21.9 µm/year, indicating structural changes.
- Electrophysiology revealed rod-cone dystrophy with preserved macular function in most cases.
- Eleven novel SNRNP200 variants were identified.
Conclusions:
- This study represents the largest cohort of SNRNP200-associated retinopathy with the longest follow-up.
- Longitudinal data indicate preserved central retina function until the sixth decade.
- Findings offer critical insights for patient counseling, clinical endpoint identification, and therapeutic development.
