Ophthalmic Manifestations in Fabry Disease: Updated Review
Fabry disease (FD) is an X-linked lysosomal storage disorder, causing Gb-3 (globotriaosylceramide) buildup in cellular lysosomes throughout the body, in particular in blood vessel walls, neuronal cells, and smooth muscle. The gradual accumulation of this glycosphingolipid in numerous eye tissues cau...
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| Format: | Article |
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MDPI AG
2023-05-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/13/6/904 |
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| author | Gloria Gambini Luca Scartozzi Federico Giannuzzi Matteo Mario Carlà Francesco Boselli Tomaso Caporossi Umberto De Vico Antonio Baldascino Stanislao Rizzo |
| author_facet | Gloria Gambini Luca Scartozzi Federico Giannuzzi Matteo Mario Carlà Francesco Boselli Tomaso Caporossi Umberto De Vico Antonio Baldascino Stanislao Rizzo |
| author_sort | Gloria Gambini |
| collection | DOAJ |
| description | Fabry disease (FD) is an X-linked lysosomal storage disorder, causing Gb-3 (globotriaosylceramide) buildup in cellular lysosomes throughout the body, in particular in blood vessel walls, neuronal cells, and smooth muscle. The gradual accumulation of this glycosphingolipid in numerous eye tissues causes conjunctival vascular abnormalities, corneal epithelial opacities (cornea verticillata), lens opacities, and retinal vascular abnormalities. Although a severe vision impairment is rare, these abnormalities are diagnostic indicators and prognostics for severity. Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement. New technologies such as optical coherence tomography angiography (OCTA) are useful for monitoring retinal microvasculature alterations in FD patients. Along with OCTA, corneal topographic analysis, confocal microscopy, and electro-functional examinations, contributed to the recognition of ocular abnormalities and have been correlated with systemic involvement. We offer an update regarding FD ocular manifestations, focusing on findings derived from the most recent imaging modalities, to optimize the management of this pathology. |
| first_indexed | 2024-03-11T02:16:39Z |
| format | Article |
| id | doaj.art-b2226b268ecb4b09bbb9a4302aae2a17 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-11T02:16:39Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-b2226b268ecb4b09bbb9a4302aae2a172023-11-18T11:10:21ZengMDPI AGJournal of Personalized Medicine2075-44262023-05-0113690410.3390/jpm13060904Ophthalmic Manifestations in Fabry Disease: Updated ReviewGloria Gambini0Luca Scartozzi1Federico Giannuzzi2Matteo Mario Carlà3Francesco Boselli4Tomaso Caporossi5Umberto De Vico6Antonio Baldascino7Stanislao Rizzo8Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, ItalyOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, ItalyOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, ItalyOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, ItalyOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, ItalyOphthalmology Department, Catholic University “Sacro Cuore”, 20123 Rome, ItalyOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, ItalyOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, ItalyOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, ItalyFabry disease (FD) is an X-linked lysosomal storage disorder, causing Gb-3 (globotriaosylceramide) buildup in cellular lysosomes throughout the body, in particular in blood vessel walls, neuronal cells, and smooth muscle. The gradual accumulation of this glycosphingolipid in numerous eye tissues causes conjunctival vascular abnormalities, corneal epithelial opacities (cornea verticillata), lens opacities, and retinal vascular abnormalities. Although a severe vision impairment is rare, these abnormalities are diagnostic indicators and prognostics for severity. Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement. New technologies such as optical coherence tomography angiography (OCTA) are useful for monitoring retinal microvasculature alterations in FD patients. Along with OCTA, corneal topographic analysis, confocal microscopy, and electro-functional examinations, contributed to the recognition of ocular abnormalities and have been correlated with systemic involvement. We offer an update regarding FD ocular manifestations, focusing on findings derived from the most recent imaging modalities, to optimize the management of this pathology.https://www.mdpi.com/2075-4426/13/6/904Fabry diseasecornea verticillatavortex keratopathyvascular tortuosityhyper-reflective focifoveal avascular zone |
| spellingShingle | Gloria Gambini Luca Scartozzi Federico Giannuzzi Matteo Mario Carlà Francesco Boselli Tomaso Caporossi Umberto De Vico Antonio Baldascino Stanislao Rizzo Ophthalmic Manifestations in Fabry Disease: Updated Review Journal of Personalized Medicine Fabry disease cornea verticillata vortex keratopathy vascular tortuosity hyper-reflective foci foveal avascular zone |
| title | Ophthalmic Manifestations in Fabry Disease: Updated Review |
| title_full | Ophthalmic Manifestations in Fabry Disease: Updated Review |
| title_fullStr | Ophthalmic Manifestations in Fabry Disease: Updated Review |
| title_full_unstemmed | Ophthalmic Manifestations in Fabry Disease: Updated Review |
| title_short | Ophthalmic Manifestations in Fabry Disease: Updated Review |
| title_sort | ophthalmic manifestations in fabry disease updated review |
| topic | Fabry disease cornea verticillata vortex keratopathy vascular tortuosity hyper-reflective foci foveal avascular zone |
| url | https://www.mdpi.com/2075-4426/13/6/904 |
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