Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of disorders that often severely impair vision. Some patients manifest poor central vision as the first symptom due to cone-dysfunction, which is consistent with cone dystrophy (COD), Stargardt disease (STGD),...

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Bibliographic Details
Main Authors: Elena Fernández-Suárez, María González-del Pozo, Alejandro García-Núñez, Cristina Méndez-Vidal, Marta Martín-Sánchez, José Manuel Mejías-Carrasco, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
cone dystrophy
Stargardt disease
macular dystrophy
autosomal dominant
THRB
thyroid hormone resistance
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2023.1197744/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2023.1197744/full

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