An atypical early-onset X-linked retinoschisis mimicking uveitis masquerade syndrome

Paiva, Alexandre de Carvalho Mendes; Teixeira, Fernando Henrique Flores; Carvalho, Erika Moreira; Santos, Nathalia Silva; Biancardi, Ana Luiza; Curi, André Luiz Land

doi:10.5935/0004-2749.202200103

Cited by 1 publication

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“…In this cohort, 4 out of 22 XLRS patients were primary diagnosed as uveitis, which is in accordance with a study by Kousal et al, reporting 3 out of 21 XLRS patients initially diagnosed as intermediate uveitis [6]. De Carvalho Mendes Paiva et al reported an 8-month-old male initially treated for presumptive ocular toxoplasmosis, due to the loss of red reflex, vitreous opacity, and thickened posterior hyaloid, who later turned out to be an XLRS patient [7]. In this case, an XLRS subject received a systemic medication, due to the initial diagnosis of intermediate uveitis with macular edema.…”

Section: Discussionsupporting

confidence: 91%

“…XLRS represents a uveitis masquerade syndrome-the distinction between this inherited retinal disease and uveitis appears to be fundamental [6,7]. In this cohort, 4 out of 22 XLRS patients were primary diagnosed as uveitis, which is in accordance with a study by Kousal et al, reporting 3 out of 21 XLRS patients initially diagnosed as intermediate uveitis [6].…”

Section: Discussionsupporting

confidence: 90%

“…The most prominent UMSs are neoplastic pathologies, including vitreoretinal/intraocular lymphoma in adults and retinoblastoma in children [2,4]. However, several non-neoplastic diseases may also masquerade as uveitis, including inherited retinal diseases and X-linked retinoschisis (XLRS) [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

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X-Linked Retinoschisis Masquerading Uveitis

Mautone

Birtel

Atiskova

et al. 2023

JCM

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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 (n = 4), and patients referred to a clinic for inherited retinal diseases (n = 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; p = 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.

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Section: Discussionsupporting

confidence: 91%