Genetic and Clinical Characterization of Danish Achromatopsia Patients

Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. New treatments are being developed, but the current evidence is still conflicting regarding possible progression over time, and there is no clear genot...

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Detalles Bibliográficos
Autores principales: Andersen, Mette Kjøbæk Gundestrup, Bertelsen, Mette, Grønskov, Karen, Kohl, Susanne, Kessel, Line
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048638/
https://www.ncbi.nlm.nih.gov/pubmed/36980963
http://dx.doi.org/10.3390/genes14030690

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048638/
https://www.ncbi.nlm.nih.gov/pubmed/36980963
http://dx.doi.org/10.3390/genes14030690

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