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Acta Ophthalmologica Mar 2023To investigate the clinical characteristics, internal correlations and risk factors for different locations of retinoschisis (RS) in an elderly high myopia (HM)...
PURPOSE
To investigate the clinical characteristics, internal correlations and risk factors for different locations of retinoschisis (RS) in an elderly high myopia (HM) population.
METHODS
A total of 448 eyes (304 participants) were analysed and classified into no retinoschisis (no-RS), paravascular retinoschisis (PVRS), peripapillary retinoschisis (PPRS) and macular retinoschisis (MRS) groups. Each participant underwent comprehensive ophthalmic examinations, and posterior scleral height (PSH) was measured in swept-source optical coherence tomography images. PSH, vitreoretinal interface abnormities and myopic atrophy maculopathy (MAM) were compared among groups.
RESULTS
Retinoschisis was found in 195 (43.5%) eyes, among which 170 (37.9%) had PVRS, 123 (27.5%) had PPRS, and 103 (23.0%) had MRS. MRS was found to be combined with PVRS in 96 of 103 (93.2%) eyes. MAM was one of the risk factors for RS (odds ratio [OR], 2.459; p = 0.005). Higher nasal PSH was the only risk factor for PVRS (OR, 9.103; p = 0.008 per 1-mm increase). Elongation of axial length (AL) (OR, 1.891; p < 0.001 per 1-mm increase), higher PSH in nasal (OR, 5.059; p = 0.009 per 1-mm increase) and temporal (OR, 13.021; p = 0.012 per 1-mm increase), epiretinal membrane (ERM; OR, 2.841; p = 0.008) and vitreomacular traction (VMT; OR, 7.335; p = 0.002) were risk factors for MRS.
CONCLUSIONS
Paravascular retinoschisis is the most common type of RS in HM and MRS is mostly combined with PVRS. MAM is one of the risk factors for RS. In addition to longer AL and higher PSH, the presence of VMT and ERM also play an important role in the formation of MRS.
Topics: Humans; Aged; Myopia; Retina; Retinoschisis; Epiretinal Membrane; Macular Degeneration; Risk Factors; Tomography, Optical Coherence; Myopia, Degenerative; Retrospective Studies
PubMed: 36004558
DOI: 10.1111/aos.15234 -
Investigative Ophthalmology & Visual... Oct 2021To provide a comprehensive analysis of light- and dark-adapted luminance thresholds and their associations with retinal structure in X-linked retinoschisis (XLRS).
PURPOSE
To provide a comprehensive analysis of light- and dark-adapted luminance thresholds and their associations with retinal structure in X-linked retinoschisis (XLRS).
METHODS
Nine subjects with XLRS and 10 visually-normal individuals participated. Threshold was measured at 15 locations along the horizontal meridian of the visual field at several adaptation levels (5 × 10-5 to 50 cd/m2) after dark-adaptation. The relationship between threshold and adaptation level across the field was described using a standard "threshold-versus-illuminance" model. Optical coherence tomography images were obtained and segmented to quantify outer nuclear layer (ONL+) and outer segment (OS+) thickness. A linear structure-function model was used to describe the relationship between threshold and the product of ONL+ and OS+ thickness.
RESULTS
For peripheral field measurements, thresholds were generally normal for most subjects with XLRS. All subjects had perifoveal and parafoveal threshold elevations under dark-adapted and high illuminance conditions, with thresholds at moderate illuminances being closer to normal. For foveal measurements, seven of nine subjects with XLRS had normal dark-adapted thresholds, and all had abnormally elevated high illuminance thresholds. Threshold-versus-illuminance curves in the fovea, parafovea, and perifovea were abnormally steep for subjects with XLRS, appearing similar to the normal peripheral field shape. Under both dark- and light-adapted conditions, threshold was predicted by ONL+ × OS+ thickness at nearly all field locations.
CONCLUSIONS
Threshold elevation in XLRS is complex, depending on both the adaptation level and the visual field location. The pattern of threshold-versus-illuminance suggests that macular function in XLRS is similar to the periphery of controls.
Topics: Adolescent; Adult; Dark Adaptation; Electroretinography; Female; Fovea Centralis; Humans; Male; Middle Aged; Photic Stimulation; Retinoschisis; Tomography, Optical Coherence; Visual Acuity; Visual Fields; Young Adult
PubMed: 34705026
DOI: 10.1167/iovs.62.13.25 -
PloS One 2014To investigate the structural and clinical characteristics of peripapillary retinoschisis observed in glaucomatous eyes using spectral-domain optical coherence...
PURPOSE
To investigate the structural and clinical characteristics of peripapillary retinoschisis observed in glaucomatous eyes using spectral-domain optical coherence tomography (SD-OCT).
METHODS
Circumpapillary retinal nerve fiber layer (cpRNFL) and macular cross-hair SD-OCT scans and infrared fundus images of the glaucoma patients from the Investigating Glaucoma Progression Study (IGPS) and healthy volunteers were reviewed. Optic disc images obtained using enhanced depth imaging (EDI) SD-OCT were also evaluated. The structural characteristics and clinical course of the retinoschisis associated with glaucoma were investigated.
RESULTS
Twenty-five retinoschisis areas were found in 22 of the 372 patients (5.9%) included in the IGPS, and in 1 area in 1 of 187 healthy control subjects (0.5%). In the 22 glaucomatous eyes with retinoschisis, the schisis was attached to the optic disc and overlapped with the retinal nerve fiber layer (RNFL) defect. The RNFL was the layer most commonly affected by the retinoschisis, either alone or together with other deeper layers. Acquired optic disc pit was identified in 8 eyes on disc photography and/or B-scan images obtained by EDI SD-OCT. Spontaneous resolution of this condition was observed in nine eyes. No retinal detachment or macular involvement of the retinoschisis was observed in any of the eyes. Multivariate analysis showed a significant influence of a higher intraocular pressure at SD-OCT scanning on the presence of retinoschisis (Odds ratio = 1.418, P = 0.001).
CONCLUSIONS
The present study investigated 22 cases of peripapillary retinoschisis in glaucomatous eyes. The retinoschisis was attached to the optic nerve and topographically correlated with RNFL defect. It often resolved spontaneously without causing severe visual disturbance. Care should be taken not to overestimate the RNFL thickness in eyes with retinoschisis, and also not to misinterpret the resolution of retinoschisis as a rapid glaucomatous RNFL deterioration.
Topics: Adult; Aged; Case-Control Studies; Female; Glaucoma; Humans; Intraocular Pressure; Male; Middle Aged; Nerve Fibers; Optic Disk; Retinoschisis; Tomography, Optical Coherence
PubMed: 24587238
DOI: 10.1371/journal.pone.0090129 -
Frontiers in Genetics 2022X-linked juvenile retinoschisis (XLRS), caused by mutations in the 1 gene, is an X-linked recessive inherited disease that typically involves both eyes in the first...
X-linked juvenile retinoschisis (XLRS), caused by mutations in the 1 gene, is an X-linked recessive inherited disease that typically involves both eyes in the first 2 decades of life. Recently, the phenotype heterogeneity of this condition has drawn increasing attention. We reported various phenotypes caused by gene mutations in eleven patients from ten Chinese families. Data on the medical history of the patients from ten Han families of central China were collected. Ophthalmic examinations including best-corrected visual acuity (BCVA), fundus photography, ultra-wide-angle sweep source optical coherence tomography (SS-OCT), and electroretinography (ERG) were performed. Adaptive optics (AO) images were acquired to evaluate the cone photoreceptor mosaic when applicable. Venous blood of the probands and their family members was collected, and DNA was subjected to sequencing based on next-generation sequencing with a custom-designed targeted gene panel PS400 for inherited retinal diseases. Validation was performed by Sanger sequencing and cosegregation. Pathogenicity was determined in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Ten mutations, including eight missense mutations and two terminator mutations, were identified in 10 XLRS families. c.657C > A (.C219X) was a novel mutation in this cohort. These patients showed a variety of clinical phenotypes, including fovea schisis, bullous retinoschisis, and macular or peripheral atrophy. Fifteen eyes of eight patients exhibited macular retinoschisis, and twelve eyes of seven patients exhibited peripheral retinoschisis. In addition, three patients showed asymmetrical fundus manifestations. Of importance, three patients without macular retinoschisis were misdiagnosed until genetic testing results were obtained. AO showed a decrease in cone density and loss of regularity in the cystic schisis macular of XLRS. Furthermore, the BCVA was associated with the photoreceptor inner segment and outer segment (IS/OS) thickness. With complicated clinical manifestations, a considerable portion of XLRS patients may present various phenotypes. It should be noted that asymmetry in fundus appearance in both eyes could lead to misdiagnosis easily. Thus, genetic testing is crucial for making a final diagnosis in those patients who are suspected of having amblyopia, bilateral or unilateral macular atrophy, or conditions presenting an asymmetric fundus appearance. In addition, the residual cone photoreceptor structure was critical for the maintenance of useful vision.
PubMed: 35309139
DOI: 10.3389/fgene.2022.832814 -
Graefe's Archive For Clinical and... Nov 2023To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients.
BACKGROUND
To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients.
METHODS
Treatment-naïve patients with genetically verified XLRS underwent best-correlated visual acuity (BCVA) testing with ETDRS charts, spectral domain optical coherence tomography, and microperimetry (MP) twice a day, at 9 a.m. and 4 p.m., to measure changes in central retinal thickness (CRT), macular volume (MV), average threshold (AT), and fixation stability parameters (P1 and P2).
RESULTS
At baseline, the BCVA of the 14 eyes of 8 patients amounted 0.73 (± 0.23) LogMAR. Between timepoints, the BCVA increased in 3.21 letters (p = .021), the AV improved in 1.84 dB (p = .03, 9.73%), the CRT decreased in 24.43 µm (p = .007, - 4.05%), and the MV dropped in 0.27 µm (p = .016, - 2.68%). P1 and P2 did not variate. The collapse of the MCS led to the reduction of macula thickness. CRT at baseline correlated with the decrease of CRT (Spearman's ρ: - 0.83 [p = .001]). Age and change of BCVA, CRT, and AV did not correlate among one another. Eyes with disrupted ellipsoid zone showed a more prominent change in CRT (p = .050). Photoreceptor outer segment length and integrity of the external limiting membrane and cone outer segment tips were not associated with BCVA, AT, or CRT variation.
CONCLUSION
Eyes of treatment-naïve XLRS patients show diurnal macular thickness and function changes. Eyes with pronounced macular thickness show a greater reduction of the MCS. These results should be taken into consideration in upcoming clinical trials in XLRS.
TRIAL REGISTRATION NUMBER
Institutional Review Board of the Hamburg Medical Chamber (Ethik-Kommission der Ärztekammer Hamburg): 2020-10,328.
PubMed: 37294434
DOI: 10.1007/s00417-023-06106-0 -
Ophthalmology and Therapy Mar 2020This commentary article is co-authored by an adult patient with X-linked retinoschisis and two ophthalmologists affiliated with the University Hospitals Birmingham NHS...
This commentary article is co-authored by an adult patient with X-linked retinoschisis and two ophthalmologists affiliated with the University Hospitals Birmingham NHS Foundation Trust. It describes the patient's experiences of sight loss and the diagnosis and management of X-linked retinoschisis. The treating ophthalmologists then draw upon these experiences and discuss the disease and associated sight loss in a wider context.
PubMed: 32060879
DOI: 10.1007/s40123-020-00233-1 -
BMC Ophthalmology Jan 2022The aim of this study is to compare outcomes of primary retinal detachment (RD) repair in retinoschisis-associated RD (RSRD) and rhegmatogenous RD (RRD). (Observational Study)
Observational Study
BACKGROUND
The aim of this study is to compare outcomes of primary retinal detachment (RD) repair in retinoschisis-associated RD (RSRD) and rhegmatogenous RD (RRD).
METHODS
This is a retrospective observational cohort study. Charts of 2247 consecutive patients operated for RD repair at the Centre hospitalier universitaire de Québec - Université Laval between 2014 and 2018 were reviewed. Patients with RSRD and RRD were included to compare the visual and anatomical outcomes of both groups.
RESULTS
There were 41 patients (1.8%) with RSRD and 1661 patients (74%) with RRD. RSRD patients had more primary repair failures (n = 9, 22%, vs. n = 166, 10%; p = 0.013). The primary anatomical success rates for pars plana vitrectomy with and without scleral buckle (PPV-SB vs. PPV) as primary repair method were similar in both RSRD patients (n = 11/14, 79% vs. n = 20/25, 80%; p = 0.92) and RRD patients (n = 751/827, 91% vs. n = 641/721, 89%; p = 0.21). At final follow-up, best corrected visual acuity (VA) in logarithm of the minimum angle of resolution (logMAR) was 0.30 [0.10, 0.88] and 0.18 [0.10, 0.40] (p = 0.03) in RSRD patients and RRD patients, respectively. Presence of retinoschisis was associated with worse final VA (β 0.082, p < 0.001). Other predictive variables included female sex, macula-off presentation, number of RD quadrants involved, longer symptoms duration, worse baseline VA, and primary repair failure. The greatest predictors were worse baseline VA, primary repair failure, and macula-off status at presentation. Presence of retinoschisis did not significantly increase risk of primary repair failure in multivariable analysis (OR 1.45, 95% CI: 0.50-4.17; p = 0.49). Symptoms duration was the greatest effect factor associated with for primary repair failure (OR 1.37, 95% CI: 1.12-1.69; p = 0.003).
CONCLUSIONS
RSRD is associated with more primary repair failure in univariate analysis, but not in multivariate analysis after adjusting for symptoms duration. It is however associated with worse final VA even after adjusting for primary repair failure. Both PPV and PPV-SB are valid repair methods for RSRD. However, RSRD remains a challenge to treat.
Topics: Cohort Studies; Female; Humans; Retina; Retinal Detachment; Retinoschisis; Retrospective Studies; Scleral Buckling; Treatment Outcome; Visual Acuity; Vitrectomy
PubMed: 34983458
DOI: 10.1186/s12886-021-02232-7 -
Medicina 2024
Topics: Humans; Male; Retinoschisis; Tomography, Optical Coherence; Adult
PubMed: 38683539
DOI: No ID Found -
BMC Ophthalmology Mar 2023To investigate the clinical characteristics of retinal honeycomb appearance in a large cohort of patients with X-linked retinoschisis (XLRS) and to determine whether it...
BACKGROUND
To investigate the clinical characteristics of retinal honeycomb appearance in a large cohort of patients with X-linked retinoschisis (XLRS) and to determine whether it is associated with complications like retinal detachment (RD) and vitreous hemorrhage (VH).
METHODS
A retrospective observational case series. A chart review of medical records, wide-field fundus imaging, and optical coherence tomography (OCT) was performed on 78 patients (153 eyes) diagnosed with XLRS at Beijing Tongren eye center between Dec 2017 and Feb 2022. The chi-square test or Fisher exact test was performed on the 2 × 2 cross-tabulations of honeycomb appearance and other peripheral retinal findings and complications.
RESULTS
Thirty-eight patients (48.7%), and 60 eyes (39.2%) had a honeycomb appearance of different areas on the fundus. The supratemporal quadrant was the most commonly affected (45 eyes, 75.0%), followed by the infratemporal (23 eyes, 38.3%), the infranasal (10 eyes,16.7%), and supranasal (9 eyes,15.0%). The appearance was significantly associated with peripheral retinoschisis, inner retinal layer break, outer retinal layer break, RD, and rhegmatogenous retinal detachment (RRD) (p < 0.01, p = 0.032, p < 0.01, p = 0.008, p < 0.01, respectively). All the eyes complicated with RRD had the appearance. None of the eyes without the appearance had RRD.
CONCLUSIONS
The data suggest that the honeycomb appearance is not uncommon in patients with XLRS and is more likely to be accompanied by an RRD, and inner and outer layer breaks, thus should be treated with caution and close observation.
Topics: Humans; Retinoschisis; Retinal Detachment; Retrospective Studies; Retina; Fundus Oculi; Retinal Perforations
PubMed: 36879218
DOI: 10.1186/s12886-023-02835-2 -
Journal of Ophthalmology 2017. To investigate transient focal microcystic retinoschisis in glaucomatous eyes in images obtained with several imaging techniques used in daily glaucoma care. . Images...
. To investigate transient focal microcystic retinoschisis in glaucomatous eyes in images obtained with several imaging techniques used in daily glaucoma care. . Images of 117 glaucoma patients and 91 healthy subjects participating in a large prospective follow-up study into glaucoma imaging were reviewed. Participants were measured with spectral domain optical coherence tomography (SD-OCT), scanning laser polarimetry (SLP), scanning laser tomography (SLT), and standard automated perimetry (SAP). The presence of a focal retinoschisis in SD-OCT was observed and correlated to SLP, SLT, and SAP measurements, both cross-sectionally and longitudinally. . Seven out of 117 glaucoma patients showed a transient, localised, peripapillary, heterogeneous microcystic schisis of the retinal nerve fiber layer (RNFL) and sometimes other retinal layers as well in SD-OCT. None of the healthy eyes showed this phenomenon nor did any of the other imaging techniques display it as detailed and consistently as did the SD-OCT. SAP showed a temporarily decreased focal retinal sensitivity during the retinoschisis and we found no signs of glaucomatous progression related to the retinoschisis. . Transient microcystic retinoschisis appears to be associated with glaucomatous wedge defects in the RNFL. It was best observed with SD-OCT and it was absent in healthy eyes. We found no evidence that the retinoschisis predicted glaucomatous progression.
PubMed: 28168045
DOI: 10.1155/2017/1536030