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X-Linked Retinoschisis Masquerading Uveitis
Luca Mautone1, Johannes Birtel1, Yevgeniya Atiskova1
1Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany.
Journal of Clinical Medicine
|June 10, 2023
Summary
X-linked retinoschisis (XLRS) can mimic uveitis, leading to misdiagnosis. Early recognition of XLRS as a uveitis masquerade syndrome is crucial for accurate diagnosis and preventing unnecessary treatments.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- X-linked retinoschisis (XLRS) is a genetic condition.
- XLRS shares clinical features with uveitis, presenting a diagnostic challenge.
- XLRS is recognized as a uveitis masquerade syndrome.
Purpose of the Study:
- To characterize XLRS patients initially diagnosed with uveitis.
- To compare these patients with those initially diagnosed with XLRS.
- To improve early diagnosis of XLRS.
Main Methods:
- Retrospective study of XLRS patients.
- Patients were referred to either a uveitis or inherited retinal disease clinic.
- Comprehensive ophthalmic examinations including fundus photography, ultra-widefield imaging, and OCT were performed.
Main Results:
- Macular cystoid schisis in XLRS was often mistaken for inflammatory macular edema.
- Vitreous hemorrhages were frequently misinterpreted as signs of intraocular inflammation in uveitis patients.
- Patients initially diagnosed with XLRS rarely presented with vitreous hemorrhages (p=0.02).
Conclusions:
- Increased awareness of XLRS as a uveitis masquerade syndrome is essential.
- Facilitating early diagnosis of XLRS can prevent inappropriate therapies.
- Ophthalmic imaging aids in differentiating XLRS from uveitis.
