Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation

BACKGROUND: Autosomal dominant retinitis pigmentosa (adRP) is a rare cause of progressive visual impairment in young patients and is frequently a result of RHO gene mutations. p.Thr58Arg rhodopsin mutation leads to misfolding of rhodopsin, subsequent accumulation in the endoplasmic reticulum, and le...

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Detalles Bibliográficos
Autores principales: Ruppert, Misty, Pyun, John, Chalam, K. V., Sierpina, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969344/
https://www.ncbi.nlm.nih.gov/pubmed/33777460
http://dx.doi.org/10.1155/2020/8860863

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969344/
https://www.ncbi.nlm.nih.gov/pubmed/33777460
http://dx.doi.org/10.1155/2020/8860863

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