Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia

Congenital disorder of glycosylation-Ia (CDG-Ia) is a rare autosomal recessive genetic disorder, characterized by systemic and ophthalmological abnormalities. Here, we report multiple retinal astrocytic hamartomas as a new retinal finding in an adolescent affected by congenital disorder of CDG-Ia. A...

Descripción completa

Detalles Bibliográficos
Autores principales: Midena, Giulia, Pilotto, Elisabetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882650/
https://www.ncbi.nlm.nih.gov/pubmed/35237617
http://dx.doi.org/10.3389/fmed.2022.697030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882650/
https://www.ncbi.nlm.nih.gov/pubmed/35237617
http://dx.doi.org/10.3389/fmed.2022.697030

Ejemplares similares