Cargando…
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...
Autores principales: | Midena, Giulia, Pilotto, Elisabetta |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
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 |
Ejemplares similares
-
Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literature
por: Paul, Lagan, et al.
Publicado: (2020) -
Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia
por: Wang, Bob Z., et al.
Publicado: (2012) -
Retinal astrocytic hamartoma and Bourneville's disease
por: Ali, Mohammad Javed, et al.
Publicado: (2012) -
Retinal Astrocytic Hamartoma in Tuberous Sclerosis
por: Mishra, Chitaranjan, et al.
Publicado: (2019) -
Congenital perineal hamartomas with rectal duplication: A case report
por: Zhang, Yixin, et al.
Publicado: (2023)