Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy

IMPORTANCE: Early-onset drusen maculopathy (EODM) is a severe disease and can lead to advanced macular degeneration early in life; however, genetic and phenotypic characteristics of individuals with EODM are not well studied. OBJECTIVE: To identify genotypic and phenotypic characteristics of individ...

Descripción completa

Detalles Bibliográficos
Autores principales: de Breuk, Anita, Heesterbeek, Thomas J., Bakker, Bjorn, Verzijden, Timo, Lechanteur, Yara T. E., Klaver, Caroline C. W., den Hollander, Anneke I., Hoyng, Carel B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8517879/
https://www.ncbi.nlm.nih.gov/pubmed/34647987
http://dx.doi.org/10.1001/jamaophthalmol.2021.4102

Ejemplares similares

Ejemplares similares