Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness

PURPOSE: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously...

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Detalles Bibliográficos
Autores principales: Al-Hujaili, Haneen, Taskintuna, Ibrahim, Neuhaus, Christine, Bergmann, Carsten, Schatz, Patrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937218/
https://www.ncbi.nlm.nih.gov/pubmed/31908403

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