An early onset cone dystrophy due to CEP290 mutation: a case report

PURPOSE: Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a juvenile retinal dystrophy caused by biallelic CEP290 mutations imitating initially the phenotype of...

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Detalles Bibliográficos
Autores principales: Binder, Anastasia, Kohl, Susanne, Grasshoff, Ute, Schäferhoff, Karin, Stingl, Katarina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Clinical Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638109/
https://www.ncbi.nlm.nih.gov/pubmed/37642804
http://dx.doi.org/10.1007/s10633-023-09940-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638109/
https://www.ncbi.nlm.nih.gov/pubmed/37642804
http://dx.doi.org/10.1007/s10633-023-09940-z

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