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CDHR1-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report

Background: Cone–rod dystrophies (CRDs) are a heterogeneous group of inherited retinal diseases (IRDs) characterized by cone photoreceptor loss, that is followed by subsequent rod photoreceptor impairment. Case presentation: A 49-year-old man complaining of diminution of vision in both eyes (OU) was...

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Detalles Bibliográficos
Autores principales: Sobolewska, Małgorzata, Świerczyńska, Marta, Dorecka, Mariola, Wyględowska-Promieńska, Dorota, Krawczyński, Maciej R., Mrukwa-Kominek, Ewa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966332/
https://www.ncbi.nlm.nih.gov/pubmed/36837600
http://dx.doi.org/10.3390/medicina59020399