Cargando…
A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy
We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON). The patient's family history was significant for a known G11778A mutation in a maternal relative...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2014
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280465/ https://www.ncbi.nlm.nih.gov/pubmed/25566062 http://dx.doi.org/10.1159/000369612 |