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...

Full description

Bibliographic Details
Main Authors:	Cem Özgönül, Osman Melih Ceylan, Volkan Hürmeriç, Fazıl Cüneyt Erdurman, Üzeyir Erdem
Format:	Article
Language:	English
Published:	Galenos Yayinevi 2011-12-01
Series:	Türk Oftalmoloji Dergisi
Subjects:	Cornea verticillata Fabry’s disease confocal microscopy
Online Access:	http://www.oftalmoloji.org/article_1403/The-Significance-Of-Ocular-Findings-In-The-Diagnosis-Of-Fabrys-Disease

id	doaj-f7abedc6fa40406b827573ac5a10c2e4
record_format	Article
spelling	doaj-f7abedc6fa40406b827573ac5a10c2e42020-11-24T22:32:49ZengGalenos YayineviTürk Oftalmoloji Dergisi1300-06592147-26612011-12-0141641441610.4274/tjo.41.57966The Significance of Ocular Findings in the Diagnosis of Fabry’s DiseaseCem Özgönül0Osman Melih Ceylan1Volkan Hürmeriç2Fazıl Cüneyt Erdurman3Üzeyir Erdem4Gülhane Askeri Tıp Akademisi, Göz Hastalıkları Anabilim Dalı, Ankara, TürkiyeGülhane Askeri Tıp Akademisi, Göz Hastalıkları Anabilim Dalı, Ankara, TürkiyeGülhane Askeri Tıp Akademisi, Göz Hastalıkları Anabilim Dalı, Ankara, TürkiyeGülhane Askeri Tıp Akademisi, Göz Hastalıkları Anabilim Dalı, Ankara, TürkiyeGülhane Askeri Tıp Akademisi, Göz Hastalıkları Anabilim Dalı, Ankara, TürkiyeFabry’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)http://www.oftalmoloji.org/article_1403/The-Significance-Of-Ocular-Findings-In-The-Diagnosis-Of-Fabrys-DiseaseCornea verticillataFabry’s diseaseconfocal microscopy
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Cem Özgönül Osman Melih Ceylan Volkan Hürmeriç Fazıl Cüneyt Erdurman Üzeyir Erdem
spellingShingle	Cem Özgönül Osman Melih Ceylan Volkan Hürmeriç Fazıl Cüneyt Erdurman Üzeyir Erdem The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease Türk Oftalmoloji Dergisi Cornea verticillata Fabry’s disease confocal microscopy
author_facet	Cem Özgönül Osman Melih Ceylan Volkan Hürmeriç Fazıl Cüneyt Erdurman Üzeyir Erdem
author_sort	Cem Özgönül
title	The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease
title_short	The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease
title_full	The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease
title_fullStr	The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease
title_full_unstemmed	The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease
title_sort	significance of ocular findings in the diagnosis of fabry’s disease
publisher	Galenos Yayinevi
series	Türk Oftalmoloji Dergisi
issn	1300-0659 2147-2661
publishDate	2011-12-01
description	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)
topic	Cornea verticillata Fabry’s disease confocal microscopy
url	http://www.oftalmoloji.org/article_1403/The-Significance-Of-Ocular-Findings-In-The-Diagnosis-Of-Fabrys-Disease
work_keys_str_mv	AT cemozgonul thesignificanceofocularfindingsinthediagnosisoffabrysdisease AT osmanmelihceylan thesignificanceofocularfindingsinthediagnosisoffabrysdisease AT volkanhurmeric thesignificanceofocularfindingsinthediagnosisoffabrysdisease AT fazılcuneyterdurman thesignificanceofocularfindingsinthediagnosisoffabrysdisease AT uzeyirerdem thesignificanceofocularfindingsinthediagnosisoffabrysdisease AT cemozgonul significanceofocularfindingsinthediagnosisoffabrysdisease AT osmanmelihceylan significanceofocularfindingsinthediagnosisoffabrysdisease AT volkanhurmeric significanceofocularfindingsinthediagnosisoffabrysdisease AT fazılcuneyterdurman significanceofocularfindingsinthediagnosisoffabrysdisease AT uzeyirerdem significanceofocularfindingsinthediagnosisoffabrysdisease
_version_	1725732250501251072

The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease

Similar Items