Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous. Here, we report a longitudinal (three-year) structure–function evaluation of a patient with a CDHR1-related retinal dystrophy. Methods: A 14-ye...

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Detalles Bibliográficos
Autores principales: Cusumano, Andrea, Falsini, Benedetto, D’Apolito, Fabian, D’Ambrosio, Michele, Sebastiani, Jacopo, Cascella, Raffaella, Barati, Shila, Giardina, Emiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9914892/
https://www.ncbi.nlm.nih.gov/pubmed/36766497
http://dx.doi.org/10.3390/diagnostics13030392

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9914892/
https://www.ncbi.nlm.nih.gov/pubmed/36766497
http://dx.doi.org/10.3390/diagnostics13030392

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