Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.
Turk J Ophthalmol
; 54(3): 127-132, 2024 Jun 28.
Article
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| MEDLINE
| ID: mdl-38940325
ABSTRACT
Objectives:
To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye. Materials andMethods:
This prospective, cross-sectional study included 30 eyes of 15 patients with FD. The diagnosis of FD was made based on a combination of clinical findings, genetic analysis, and biochemical evaluation. All participants underwent a detailed ophthalmic examination with special focus on the typical ocular features of FD (cornea verticillata, conjunctival aneurysms, cataract, retinal vessel tortuosity).Results:
The mean age was 45±17 years (range 22-75 years), with a female/male ratio of 23. All patients had tortuous conjunctival vessels and 12 patients (80%) had conjunctival aneurysms. Cornea verticillata was present in 10 patients (66.6%), lens opacification in 4 patients (26.6%), and retinal vascular tortuosity in 8 patients (53.3%). All patients had at least two different ocular findings; most (3 heterozygotes/7 hemizygotes) had a combination of corneal verticillata and conjunctival vessel abnormality. The conjunctiva, cornea, and retina were affected together in 5 hemizygous patients (33.3%). One hemizygous patient had all FDrelated ocular manifestations in both eyes.Conclusion:
To our knowledge, this study is the first to describe the ocular manifestations of FD in the Turkish population. Although cornea verticillata is considered a hallmark of FD, it was absent in approximately one-third of patients. Moreover, cataract, another well-known feature of FD, was present in only 26.6% of the patients. Conjunctival vascular abnormality alone seems to be quite rare in FD, although it often accompanies other ocular manifestations. Therefore, recognition of other mild findings and special consideration of their associations may increase the diagnostic value of ocular findings in FD.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Fabry
/
Centros de Atención Terciaria
Límite:
Adult
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Aged
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Female
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Humans
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Male
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
Turk J Ophthalmol
Año:
2024
Tipo del documento:
Article