Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.

Anna MajanderEeva-Marja SankilaAura FalckLaura Kristiina VasaraSanna SeitsonenMaarit KulmalaAnna-Kaisa Haavisto Kristiina Avela Joni Antero Turunen

Published in: Acta ophthalmologica (2022)

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.

Keyphrases

optical coherence tomography
diabetic retinopathy
optic nerve
intellectual disability
autism spectrum disorder