Natural history and biomarkers of retinal dystrophy caused by the biallelic <em>TULP1</em> variant c.148delG
Majander, Anna; Sankila, Eeva-Marja; Falck, Aura; Vasara, Laura Kristiina; Seitsonen, Sanna; Kulmala, Maarit; Haavisto, Anna-Kaisa; Avela, Kristiina; Turunen, Joni A. (2022-09-21)
Majander, A., Sankila, E-M., Falck, A., Vasara, L.K., Seitsonen, S. & Kulmala, M. et al. (2023) Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. Acta Ophthalmologica, 101, 215–221. Available from: https://doi.org/10.1111/aos.15252
© 2022 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
https://creativecommons.org/licenses/by-nc-nd/4.0/
https://urn.fi/URN:NBN:fi-fe20230925136834
Tiivistelmä
Abstract
Purpose: To report clinical features and potential disease markers of inherited retinal dystrophy (IRD) caused by the biallelic c.148delG variant in the tubby-like protein 1 (TULP1) gene.
Methods: A retrospective observational study of 16 IRD patients carrying a homozygous pathogenic TULP1 c.148delG variant. Clinical data including fundus spectral-domain optical coherence tomography (SD-OCT) were assessed. A meta-analysis of visual acuity of previously reported other pathogenic TULP1 variants was performed for reference.
Results: The biallelic TULP1 variant c.148delG was associated with infantile and early childhood onset IRD. Retinal ophthalmoscopy was primarily normal converting to peripheral pigmentary retinopathy and maculopathy characterized by progressive extra-foveal loss of the ellipsoid zone (EZ), the outer plexiform layer (OPL), and the outer nuclear layer (ONL) bands in the SD-OCT images. The horizontal width of the foveal EZ showed significant regression with the best-corrected visual acuity (BCVA) of the eye (p < 0.0001, R2 = 0.541, F = 26.0), the age of the patient (p < 0.0001, R2 = 0.433, F = 16.8), and mild correlation with the foveal OPL-ONL thickness (p = 0.014, R2 = 0.245, F = 7.2). Modelling of the BCVA data suggested a mean annual loss of logMAR 0.027. The level of visual loss was similar to that previously reported in patients carrying other truncating TULP1 variants.
Conclusions: This study describes the progression of TULP1 IRD suggesting a potential time window for therapeutic interventions. The width of the foveal EZ and the thickness of the foveal OPL-ONL layers could serve as biomarkers of the disease stage.
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