The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease
Fabry’s disease is an X-linked, inherited disorder caused by a deficiency of the enzyme alfa-galactosidase A and characterized by progressive accumulation of glycosphingolipids within several tissues and organs, including the eye. Ocular findings of Fabry’s disease are cornea verticillata, conjunc...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2011-12-01
|
| Series: | Türk Oftalmoloji Dergisi |
| Subjects: | |
| Online Access: | http://www.oftalmoloji.org/article_1403/The-Significance-Of-Ocular-Findings-In-The-Diagnosis-Of-Fabrys-Disease |
| Summary: | Fabry’s disease is an X-linked, inherited disorder caused by a deficiency of the enzyme alfa-galactosidase A and characterized by progressive
accumulation of glycosphingolipids within several tissues and organs, including the eye. Ocular findings of Fabry’s disease are cornea
verticillata, conjunctival vascular changes, retinal vessel tortuosity and cataract. We report the clinical and confocal microscopic findings
of cornea verticillata observed in a patient who was diagnosed as Fabry’s disease. (Turk J Oph thal mol 2011; 41: 414-6) |
|---|---|
| ISSN: | 1300-0659 2147-2661 |