Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration

There is a lack of studies which seek to discern disease expression in patients with mutations that alter retinal ceramide metabolism, specifically in the ceramide kinase like (CERKL) gene. This cross-sectional case series reports a novel phenotypic manifestation of CERKL-associated retinopathy. Fou...

Descripción completa

Detalles Bibliográficos
Autores principales: Sengillo, Jesse D., Cho, Galaxy Y., Paavo, Maarjaliis, Lee, Winston, White, Eugenia, Jauregui, Ruben, Sparrow, Janet R., Allikmets, Rando, Tsang, Stephen H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351646/
https://www.ncbi.nlm.nih.gov/pubmed/30696906
http://dx.doi.org/10.1038/s41598-018-37578-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351646/
https://www.ncbi.nlm.nih.gov/pubmed/30696906
http://dx.doi.org/10.1038/s41598-018-37578-4

Ejemplares similares