Typical and atypical clinical presentations of X-Linked retinoschisis: A case series and literature review

Wakabayashi, Taku; Chang, Emmanuel; Nudleman, Eric; El-Rayes, Ehab N; Yonekawa, Yoshihiro

doi:10.1016/j.survophthal.2023.01.008

Cited by 4 publications

(3 citation statements)

References 101 publications

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“…RD is a relatively common complication of XLRS, reported to occur in 0-23% of cases (24,49). Similarly, we observed RD in 7.7% of eyes in our series, all but one of which underwent vitrectomy with stable retinal findings post-operatively.…”

Section: Discussionsupporting

confidence: 85%

Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials

et al. 2023

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IntroductionX-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by pathogenic mutations in the retinoschisin gene, RS1. Affected individuals develop retinal layer separation, leading to loss of visual acuity (VA). Several XLRS gene therapy trials have been attempted but none have met their primary endpoints. An improved understanding of XLRS natural history and clinical outcomes may better inform future trials. Here, we report the long-term functional and structural outcomes of XLRS and the relevance of RS1 genotypes to the visual prognosis of affected individuals.MethodsA retrospective chart review of patients with molecularly confirmed X-linked retinoschisis was performed. Functional and structural outcomes, and RS1 genotype data, were included for analysis.ResultsFifty-two patients with XLRS from 33 families were included in the study. Median age at symptom onset was 5 years (range 0–49) and median follow-up was 5.7 years (range 0.1–56.8). Macular retinoschisis occurred in 103 of 104 eyes (99.0%), while peripheral retinoschisis occurred in 48 of 104 eyes (46.2%), most often in the inferotemporal quadrant (40.4%). Initial and final VA were similar (logMAR 0.498 vs. 0.521; p = 0.203). Fifty of 54 eyes (92.6%) developed detectable outer retinal loss by age 20, and 29 of 66 eyes (43.9%) had focal or diffuse outer retinal atrophy (ORA) by age 40. ORA but not central subfield thickness (CST) was associated with reduced VA. Inter-eye correlation was modest for VA (r-squared = 0.03; p = 0.08) and CST (r-squared = 0.15; p = 0.001). Carbonic anhydrase inhibitors (CAIs) improved CST (p = 0.026), but not VA (p = 0.380). Eight of 104 eyes (7.7%) had XLRS-related retinal detachment (RD), which was associated with poorer outcomes compared to eyes without RD (median final VA 0.875 vs. 0.487; p <0.0001). RS1 null genotypes had greater odds of at least moderate visual impairment at final follow-up (OR 7.81; 95% CI 2.17, 28.10; p = 0.002) which was independent of age at onset, initial CST, initial ORA, or previous RD.DiscussionOverall, long-term follow-up of XLRS patients demonstrated relatively stable VA, with presenting CST, development of ORA, and null RS1 mutations associated with poorer long-term visual outcomes, indicating a clinically relevant genotype-phenotype correlation in XLRS.

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Section: Discussionsupporting

confidence: 85%

Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials

et al. 2023

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“…In the literature, there have been occasional reports of atypical cases where X-linked retinoschisis manifests with both macular and peripheral retinoschisis, progressing to rhegmatogenous or tractional retinal detachments, and, less commonly, leading to macular hole or macular folds. 8 The diagnosis of X-linked retinoschisis in this instance cannot be confirmed solely based on the absence of appropriate genetic testing or electroretinography and the normal appearance of the fellow eye retina.…”

Section: Discussionmentioning

confidence: 98%

Progressive retinoschisis and retinal detachment after uncomplicated macular hole repair surgery

Prabhu,

Yadav,

Bavaskar

et al. 2024

European Journal of Ophthalmology

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Purpose To report a rare case of progressive retinoschisis and retinal detachment after uncomplicated macular hole (MH) surgery. Case description A 67-year-old man with recent onset vision complaints in the right eye (visual acuity – 20/30), was diagnosed with a small idiopathic full-thickness MH. He underwent a 3-port 25G pars plana vitrectomy surgery with internal limiting membrane peeling and air endotamponade. Results MH closed with a normal foveal contour and intact retinal layers by the 1st post operative week and vision improved to 20/20. At the 7th week follow-up period, the patient complained of visual disturbances in his right eye for 2 days. Optical coherence tomography scans revealed development of peripheral retinoschisis which progressed towards the macula over the next 4 weeks. At the 13th week following the retinal surgery, patient developed sudden profound vision loss to hand motions and a total retinal detachment was noted. He underwent a second retinal surgery with retinectomy to the stiff retina and silicone oil endotamponade. At the last follow-up visit 8 weeks after the second surgery, the visual acuity had improved to 20/120 and the retina was well-attached with silicone oil in place. Conclusion We present a rare case of progressive retinoschisis and retinal detachment caused by residual ILM contraction after MH repair surgery. To the best of our knowledge, no such complication after MH repair surgery has been reported in the literature.

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“…Congenital X-Linked Retinoschisis (XLRS) XLRS (RS1, OMIM #300839: X-linked recessive) is a retinal dystrophy characterized by retinoschisis of the inner and/or neuronal retina, and vision loss in affected men, while carrier females are asymptomatic. This condition is responsible for the majority of cases of congenital retinoschisis: macula (foveal) retinoschisis has been reported in 70-100% of the XLRS cases in younger patients, while in 50% of the cases, peripheral retinoschisis is also observed [162][163][164]. SD-OCT has been pivotal in studying the schisis, its location within the retina, and its extension.…”

Section: Congenital Vitreoretinopathiesmentioning

confidence: 99%

Retinal Imaging Findings in Inherited Retinal Diseases

Corradetti,

Verma,

Tojjar

et al. 2024

JCM

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Inherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic characterization of this group of diseases and have facilitated phenotype-to-genotype correlation studies. As a result, the number of clinical trials targeting IRDs has steadily increased, and commensurate to this, the need for novel reproducible outcome measures and endpoints has grown. This review aims to summarize and describe the clinical presentation, characteristic imaging findings, and imaging endpoint measures that are being used in clinical research on IRDs. For the purpose of this review, IRDs have been divided into four categories: (1) panretinal pigmentary retinopathies affecting rods or cones; (2) macular dystrophies; (3) stationary conditions; (4) hereditary vitreoretinopathies.

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Typical and atypical clinical presentations of X-Linked retinoschisis: A case series and literature review

Cited by 4 publications

References 101 publications

Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials

Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials

Progressive retinoschisis and retinal detachment after uncomplicated macular hole repair surgery

Retinal Imaging Findings in Inherited Retinal Diseases

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