| Identifier |
68_Fabry's Disease |
| Title |
Fabry's Disease |
| Creator |
David G. Cogan, MD (1908-1993) |
| Contributors |
David D. Donaldson |
| Affiliation |
(DGC) Former Director of Ophthalmology, National Eye Institute, National Institutes of Health, U.S. Department of Health and Human Services |
| Subject |
Retina; Retinal Vessels; Telangiectasis; Retinal Telangiectasis; Conjunctiva; Fabry Disease; Glycosphingolipids; Genetic Diseases, Inborn; Venules; Telangiectasis |
| Description |
Presenting Symptom: Telangiectases. Pathology: Telangiectasis. Clinical: Fabry Disease is a storage disease in which ceramide trihexoside accumulates in various tissues but most notably in endothelia of blood vessels. One of its prime manifestations are telangiectases of the groin and of the conjunctiva. Ophthalmoscopic signs consist of unusual tortuosity of the retinal venules. The patient was a 37-year old male with the characteristic telangiectases of the skin and conjunctiva and tortuous retinal veins. Disease/ Diagnosis: Fabry Disease |
| Date |
1971 |
| Language |
eng |
| Format |
image/jpeg |
| Type |
Image |
| Relation is Part of |
Ocular Fundus Slides |
| Collection |
Neuro-Ophthalmology Virtual Education Library: David G. Cogan Collection: https://novel.utah.edu/Cogan/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2008. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6zw1nmg |
| Setname |
ehsl_novel_dgc |
| ID |
177324 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6zw1nmg |
