Macular telangiectasia type 2 in a patient with Down syndrome: A possible association
Metabolic pathways including serine/glycine and sphingolipids are incriminated in both entities' pathogenesis suggesting a possible association, hence, the importance of raising awareness of this association. More cases are likely to be found since DS patients currently have a nearly normal lifespan. Additional retinal examination of DS adults is then necessary to look for signs of MacTel 2.
Authors
- Alexandra Mière (ORCID: https://orcid.org/0000-0003-4123-8210)
- Nabil Herda
- Hoang Mai Le
- Safa Halouani
- Eric H. Souied (ORCID: https://orcid.org/0000-0001-9388-202X)
- Alina Cirneanu
Institutions
- Hôpital Intercommunal de Créteil (FR)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2024-09-14
- DOI
- https://doi.org/10.1016/j.ajoc.2024.102173
- Primary Topic
- Ocular Diseases and Behçet’s Syndrome
- Type
- article
- Field-Weighted Citation Impact
- 0.00