X-Linked Retinoschisis Masquerading Uveitis
X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS di...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-05-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/11/3729 |
| _version_ | 1797597191310671872 |
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| author | Luca Mautone Johannes Birtel Yevgeniya Atiskova Vasyl Druchkiv Nicole Stübiger Martin S. Spitzer Simon Dulz |
| author_facet | Luca Mautone Johannes Birtel Yevgeniya Atiskova Vasyl Druchkiv Nicole Stübiger Martin S. Spitzer Simon Dulz |
| author_sort | Luca Mautone |
| collection | DOAJ |
| description | X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS (<i>n</i> = 4), and patients referred to a clinic for inherited retinal diseases (<i>n</i> = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; <i>p</i> = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies. |
| first_indexed | 2024-03-11T03:03:14Z |
| format | Article |
| id | doaj.art-0d01ad1d90bb478d98f05b39aae6254a |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T03:03:14Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-0d01ad1d90bb478d98f05b39aae6254a2023-11-18T08:05:39ZengMDPI AGJournal of Clinical Medicine2077-03832023-05-011211372910.3390/jcm12113729X-Linked Retinoschisis Masquerading UveitisLuca Mautone0Johannes Birtel1Yevgeniya Atiskova2Vasyl Druchkiv3Nicole Stübiger4Martin S. Spitzer5Simon Dulz6Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, GermanyX-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS (<i>n</i> = 4), and patients referred to a clinic for inherited retinal diseases (<i>n</i> = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; <i>p</i> = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies.https://www.mdpi.com/2077-0383/12/11/3729X-linked retinoschisismasquerade syndromeuveitis<i>RS1</i>phenocopyphenotyping |
| spellingShingle | Luca Mautone Johannes Birtel Yevgeniya Atiskova Vasyl Druchkiv Nicole Stübiger Martin S. Spitzer Simon Dulz X-Linked Retinoschisis Masquerading Uveitis Journal of Clinical Medicine X-linked retinoschisis masquerade syndrome uveitis <i>RS1</i> phenocopy phenotyping |
| title | X-Linked Retinoschisis Masquerading Uveitis |
| title_full | X-Linked Retinoschisis Masquerading Uveitis |
| title_fullStr | X-Linked Retinoschisis Masquerading Uveitis |
| title_full_unstemmed | X-Linked Retinoschisis Masquerading Uveitis |
| title_short | X-Linked Retinoschisis Masquerading Uveitis |
| title_sort | x linked retinoschisis masquerading uveitis |
| topic | X-linked retinoschisis masquerade syndrome uveitis <i>RS1</i> phenocopy phenotyping |
| url | https://www.mdpi.com/2077-0383/12/11/3729 |
| work_keys_str_mv | AT lucamautone xlinkedretinoschisismasqueradinguveitis AT johannesbirtel xlinkedretinoschisismasqueradinguveitis AT yevgeniyaatiskova xlinkedretinoschisismasqueradinguveitis AT vasyldruchkiv xlinkedretinoschisismasqueradinguveitis AT nicolestubiger xlinkedretinoschisismasqueradinguveitis AT martinsspitzer xlinkedretinoschisismasqueradinguveitis AT simondulz xlinkedretinoschisismasqueradinguveitis |