X-Linked Retinoschisis

Hahn, Leo; Schooneveld, Mary J. van; Wesseling, Nieneke L.; Florijn, Ralph J.; Brink, Jacoline B. ten; Lissenberg‐Witte, Birgit I.; Strubbe, Ine; Meester-Smoor, Magda A.; Thiadens, Alberta A H J; Diederen, Roselie M.H.; Cauwenbergh, Caroline Van; Zaeytijd, Julie De; Walraedt, Sophie; Baere, Elfride De; Klaver, Caroline C W; Norel, Jeannette Ossewaarde–van; Born, L. Ingeborgh van den; Hoyng, Carel B.; Genderen, Maria M. van; Sieving, Paul A.; Leroy, Bart P.; Bergen, Arthur A.; Boon, Camiel J F

doi:10.1016/j.ophtha.2021.09.021

Cited by 38 publications

(52 citation statements)

References 36 publications

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“…On the other hand, pathogenic variants of RS1 in our cohort were rather diverse, but all 11 identified variants were located in exon 4 to exon 6, corresponding to the discoidin domain. Among the RS1 variants, c.214G>A:p.E72K, which was shared by two pedigrees, was the most frequent variant reported in European (Hahn et al, 2021) and Chinese (Xiao et al, 2021) retinoschisis cohort analyses.…”

Section: Resultsmentioning

confidence: 93%

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing

et al. 2022

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Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone-or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees.The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively.Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.

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Section: Resultsmentioning

confidence: 93%

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing

et al. 2022

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“…Additionally, structural examinations with OCT imaging showed no differences regarding the presence of macular cystoid schisis, epiretinal membranes, and outer retinal atrophy. Macular cystoid schisis is a common feature in XLRS (70.4-88% of cases), and it may involve the macula only or extend throughout the macula, outside the temporal arcades and nasal to the optic disc [9,10,[20][21][22]. Especially if the schisis is limited to the macula, the differentiation from an inflammatory macular edema-present in 35.3% of intermediate and 18.9% of posterior uveitis-may be challenging [21,23].…”

Section: Discussionmentioning

confidence: 99%

“…XLRS is caused by variants in the retinoschisin 1 (RS1) gene, the gene product is important for the maintenance of the retinal structure [8]. Clinical characteristics of XLRS include macular cystoid schisis, a macular spoke wheel pattern, peripheral retinoschisis, recurrent vitreous hemorrhages, and retinal vessel abnormalities such as vascular attenuation or shealting [9][10][11][12]. A precise diagnosis appears decisive for XLRS patients, enabling timely patient/family counseling, and may enable inclusion in upcoming clinical trials [13][14][15][16].…”

Section: Introductionmentioning

confidence: 99%

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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“…In a large study, macular atrophy was described in 30 of 335 patients (8.8%), with a mean age of 36.4 years. 30 This argues for early treatment of macular cystic lesions before onset of atrophy in XLRS if one suspects that treatment has a positive effect in preventing atrophy. However, Patients 5 and 14 initiated treatment at relatively older ages of 24.91 and 41.78 years, respectively, but still demonstrated improvement in VA and CST (Table 4).…”

Section: Discussionmentioning

confidence: 99%

“…Median age to reach low visual acuity (defined as 20/70 > VA ≥ 20/200) is 25 years. 30 Over time, cystic cavities collapse and patients develop retinal atrophy. 28 Thus, even when a reduction in the volume of cystic spaces is observed, resulting in reduced CST, disease progression can lead to atrophy that can limit a corresponding VA improvement irrespective of treatment.…”

Section: Discussionmentioning

confidence: 99%

Topical Carbonic Anhydrase Inhibitors in the Long-Term Treatment of Juvenile X-Linked Retinoschisis

Schmitt

Wang

DeBenedictis

et al. 2022

Retina

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Purpose: To describe the response to long-term topical dorzolamide treatment in patients with juvenile X-linked retinoschisis and cystic-like foveal lesions.Methods: This was a retrospective interventional case series that included 18 eyes of 10 patients with genetically confirmed juvenile X-linked retinoschisis examined at the Cleveland Clinic Cole Eye Institute, a tertiary referral center, between 2005 and 2021. Patients were treated with topical 2% dorzolamide two to three times daily in both eyes. Two eyes were excluded because of retinal detachment. Primary outcome measures were logarithm of minimum angle of resolution visual acuity and optical coherence tomography based central subfield thickness.Results: The mean follow-up was 8.38 years (SD, 3.41 years). The mean baseline and final central subfield thickness was 429.88 mm (SD, 143.36 mm) and 372.28 mm, respectively (SD, 147.13 mm, P = 0.10). The mean baseline and final logarithm of minimum angle of resolution visual acuity was 0.45 (SD, 0.17) and 0.34, respectively (SD, 0.22, P , 0.01). None of the patients experienced any side effects from topical dorzolamide. Conclusion:The study data support previous reports of improved visual acuity in Xlinked retinoschisis patients on topical dorzolamide treatment. This is the longest follow-up for a series of juvenile X-linked retinoschisis patients treated with a topical carbonic anhydrase inhibitor to date. A large, prospective, randomized clinical trial is needed to provide stronger evidence regarding the efficacy of topical carbonic anhydrase inhibitors in juvenile X-linked retinoschisis.

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X-Linked Retinoschisis

Cited by 38 publications

References 36 publications

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing

X-Linked Retinoschisis Masquerading Uveitis

Topical Carbonic Anhydrase Inhibitors in the Long-Term Treatment of Juvenile X-Linked Retinoschisis

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