| Title |
A 61-Year-Old Man With Blepharoptosis, Ophthalmoplegia, Dysphagia, and Trouble Focusing His Eyes |
| Creator |
Zoe Cubero, BS; Carolina A. Chiou, MD; Loulwah Mukharesh, MD; Joseph F. Rizzo III, MD |
| Affiliation |
Juan Bautista School of Medicine (ZC), Caguas, Puerto Rico; Neuro-Ophthalmology Service (CAC, LM, JFR), Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts; and Department of Neurology (LM), University of North Carolina, Chapel Hill, North Carolina |
| Subject |
Blepharoptosis / diagnosis; Blepharoptosis / etiology; Deglutition Disorders / diagnosis; Deglutition Disorders / etiology; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Ophthalmoplegia / diagnosis; Ophthalmoplegia / etiology; Ophthalmoplegia / physiopathology |
| Date |
2024-09 |
| Date Digital |
2024-09 |
| References |
Trollet C, Boulinguiez A, Roth F, et al. Oculopharyngeal Muscular Dystrophy, 1993. Updated 2020. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1126/ . Accessed February 26, 2022. Chen AW-G, Wu S-L, Cheng W-L, et al. Dysphagia with fatal choking in oculopharyngeal muscular dystrophy. Medicine. 2018;97:e12935. Davies JE, Wang L, Garcia-Oroz L, et al. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat Med. 2005;11:672-677.Davies JE, Sarkar S, Rubinsztein DC. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum Mol Genet. 2006;15:23-31. Malerba A, Klein P, Bachtarzi H, et al. PABPN1 gene therapy for oculopharyngeal muscular dystrophy. Nat Commun. 2017;8:14848. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Publication Type |
Journal Article |
| Source |
Journal of Neuro-Ophthalmology, September 2024, Volume 44, Issue 3 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| ARK |
ark:/87278/s6y593fb |
| Setname |
ehsl_novel_jno |
| ID |
2901254 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6y593fb |
