TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, which to date has never been associated with an IRD...

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Bibliographic Details
Main Authors: Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
Format: Article
Language:English
Published: American Society for Clinical investigation 2023-11-01
Series:JCI Insight
Subjects:
Genetics
Ophthalmology
Online Access:https://doi.org/10.1172/jci.insight.169426

Internet

https://doi.org/10.1172/jci.insight.169426

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