A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy

PURPOSE: To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone–rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers. METHODS: Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two sites. Assessments included cen...

Descripción completa

Detalles Bibliográficos
Autores principales: Scopelliti, Amanda J., Jamieson, Robyn V., Barnes, Elizabeth H., Nash, Benjamin, Rajagopalan, Sulekha, Cornish, Elisa L., Grigg, John R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638150/
https://www.ncbi.nlm.nih.gov/pubmed/37775646
http://dx.doi.org/10.1007/s10633-023-09954-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638150/
https://www.ncbi.nlm.nih.gov/pubmed/37775646
http://dx.doi.org/10.1007/s10633-023-09954-7

Ejemplares similares