| Presentation preference | Oral presentation |
| Title | X-linked retinoschisis masquerading uveitis |
| Purpose | Uveitis masquerade syndromes (UMS) describe non-inflammatory conditions mimicking uveitis. As X-linked retinoschisis (XLRS) shows features also seen in the uveitis spectrum. The aim of this study is to report characteristics of XLRS patients initially diagnosed as uveitis and to contrast these to patients with an initial XLRS diagnosis. |
| Methods | XLRS patients referred to a dedicated uveitis clinic (initial diagnosis of uveitis [uXLRS]) and patients referred to a clinic for inherited retinal diseases (initial diagnosis of XLRS [pXLRS]) were included. All patients underwent a full ophthalmic examination including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). |
| Results | Twenty-two patients with a molecular confirmed diagnosis of XLRS were included; 4 were referred with a suspected diagnosis of uveitis, and 18 with a suspected (hereditary) retinal disease. Vitreous hemorrhages, initially interpret as intraocular inflammatory activity, was revealed in the majority (3/4, 75%) of the uXLRS patients while only few (2/18, 11%; p=0.02) of the pXLRS patients demonstrated this feature. In the uXLRS patients, the macular cystoid schisis was always interpret as an inflammatory macular oedema. No significant difference in age, family history, lens status, history of vitreoretinal surgery, or vitreoretinal findings were found. Retinal imaging revealed similar macular anatomical features between groups. |
| Conclusion | An increased awareness of XLRS as an uveitis masquerade syndrome may facilitate early diagnosis, shorten diagnostic odysseys, and may prevent unnecessary therapies. This may also be beneficial in the advent of interventional trials for XLRS. |
| Conflict of interest | No |
Authors 1
| Last name | MAUTONE |
| Initials of first name(s) | L |
| Department | Ophthalmology Department University Medical Center Hamburg-Eppendorf |
| City | Hamburg |
| Country | Germany |
Authors 2
| Last name | Birtel |
| Initials of first name(s) | J |
| Department | Ophthalmology Department University Medical Center Hamburg-Eppendorf |
| City | Hamburg |
| Country | Germany |
Authors 3
| Last name | Atiskova |
| Initials of first name(s) | Y |
| Department | Ophthalmology Department University Medical Center Hamburg-Eppendorf |
| City | Hamburg |
| Country | Germany |
Authors 4
| Last name | Druchkiv |
| Initials of first name(s) | V |
| Department | Ophthalmology Department University Medical Center Hamburg-Eppendorf |
| City | Hamburg |
| Country | Germany |
Authors 5
| Last name | Stübiger |
| Initials of first name(s) | N |
| Department | Ophthalmology Department University Medical Center Hamburg-Eppendorf |
| City | Hamburg |
| Country | Germany |
Authors 6
| Last name | Spitzer |
| Initials of first name(s) | MS |
| Department | Ophthalmology Department University Medical Center Hamburg-Eppendorf |
| City | Hamburg |
| Country | Germany |
Authors 7
| Last name | Dulz |
| Initials of first name(s) | S |
| Department | Ophthalmology Department University Medical Center Hamburg-Eppendorf |
| City | Hamburg |
| Country | Germany |
