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American Journal of Medical Genetics.... Dec 2016Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for... (Review)
Review
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies. This review provides an update on gene therapies and randomized control trials for inherited retinal disease, including Leber congenital amaurosis, choroideremia, retinitis pigmentosa, Usher syndrome, X-linked retinoschisis, Leber hereditary optic neuropathy, and achromatopsia. New gene-modifying and cell-based strategies are also discussed. © 2016 Wiley Periodicals, Inc.
Topics: Cell Transplantation; Genetic Therapy; Humans; Randomized Controlled Trials as Topic; Retinal Diseases
PubMed: 27862925
DOI: 10.1002/ajmg.c.31534 -
Indian Journal of Ophthalmology Dec 2021To present a selected case series of advanced glaucoma-associated peripapillary and macular retinoschisis and response to various treatment strategies with a...
PURPOSE
To present a selected case series of advanced glaucoma-associated peripapillary and macular retinoschisis and response to various treatment strategies with a comprehensive literature review.
METHODS
Retrospective observational case series. Retrospective review of five selected cases of advanced glaucoma with peripapillary and macular retinoschisis.
RESULTS
All five patients had advanced glaucomatous damage with macular and peripapillary retinoschisis, three (patients 2, 3, and 5) had a neurosensory detachment of the macula. Increased intraocular pressure was managed with maximal antiglaucoma medications and G6 micropulse diode laser treatment in the first patient, transscleral diode laser in the second patient, mitomycin-C augmented trabeculectomy in the third patient, maximal antiglaucoma medications alone in the fourth patient, pars plana vitrectomy followed by trabeculectomy in the fifth patient.
CONCLUSION
We speculate that peripapillary and macular retinoschisis may indicate a vision-threatening sequelae of advanced glaucoma. The probable inciting factor for this vision-threatening pathology being elevated intraocular pressure, fluctuations in intraocular pressure, and chronic glaucoma with advanced cupping. We emphasize that meticulous examination of the macula in patients with advanced glaucoma is mandatory. It is imperative to do OCT macula in patients with advanced glaucoma to diagnose this distinct entity at an earlier stage and preserve the existing visual potential.
Topics: Antiglaucoma Agents; Glaucoma; Humans; Intraocular Pressure; Retinoschisis; Retrospective Studies; Tomography, Optical Coherence
PubMed: 34826994
DOI: 10.4103/ijo.IJO_668_21 -
Global Health & Medicine Jun 2020Pathologic myopia is a major cause of low vision and blindness worldwide. Its social and economic burden has been demonstrated by epidemiological studies. There have... (Review)
Review
Pathologic myopia is a major cause of low vision and blindness worldwide. Its social and economic burden has been demonstrated by epidemiological studies. There have been recent advances in the classification system for myopic maculopathy that enables clinicians to describe different types of lesions, including tessellated fundus, diffuse/patchy chorioretinal atrophy, macular atrophy, lacquer cracks, choroidal neovascularization (CNV), and Fuchs' spot, in a standardized format. From a therapeutic point of view, anti-vascular endothelial growth factor therapy has been established as first-line choice for myopic CNV. For myopic retinoschisis and macular holes with/without retinal detachment, pars plana vitrectomy has been generally accepted as an efficient strategy. Studies are being conducted to determine how to avoid the development of a postoperative macular hole and to improve the quality of vision after surgery. In recent years, studies have revealed preventive measures that can be taken against myopia progression, including low-dose atropine eyedrops and contact lens wearing with peripheral myopic defocusing.
PubMed: 33330799
DOI: 10.35772/ghm.2020.01007 -
Investigative Ophthalmology & Visual... Aug 2022To evaluate spatial and temporal integration across the visual field in individuals with juvenile X-linked retinoschisis (XLRS).
PURPOSE
To evaluate spatial and temporal integration across the visual field in individuals with juvenile X-linked retinoschisis (XLRS).
METHODS
Nine subjects with XLRS and 10 visually normal individuals participated. Luminance thresholds were measured at 15 locations along the horizontal visual field meridian. Locations were grouped into four regions for analysis: foveal, parafoveal (2°), perifoveal (5°-10°), and peripheral (10°-60°). For spatial integration measurements, stimulus duration was 100 ms, and size ranged from 0.01 to 2.32 deg2 (Goldmann I-V). For temporal integration measurements, stimulus size was 0.15 deg2 (Goldmann III), and duration ranged from 12 to 800 ms. The effect of stimulus size and duration on the subjects' threshold was described using integration models.
RESULTS
Luminance thresholds for the XLRS group were more elevated for small targets (2.0×-12.6×) than for large targets (1.25×-3.2×) compared to controls for all locations. Likewise, thresholds for the XLRS group were more elevated for short durations (6.3×) than for long durations (4.0×) in the fovea and parafovea but were similarly elevated at all durations (2.0×-2.5×) in the perifovea and periphery. For both the size and duration experiments, thresholds measured in the fovea, parafovea, and perifovea of XLRS subjects were highly similar to those measured from the peripheral field of the controls.
CONCLUSIONS
Spatial and temporal integration characteristics of the XLRS fovea, parafovea, and perifovea are similar to those of the normal periphery. The results also indicate that scaling stimulus size equates thresholds for the XLRS and control subjects throughout the visual field, but scaling duration does not.
Topics: Fovea Centralis; Humans; Retinoschisis; Visual Fields
PubMed: 35984651
DOI: 10.1167/iovs.63.9.22 -
Ophthalmology Dec 2023To describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV).
PURPOSE
To describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV).
DESIGN
Multicenter retrospective cohort study.
PARTICIPANTS
A total of 67 patients with IRD-related CLV.
METHODS
Review of clinical notes, ophthalmic imaging, and molecular diagnosis from 2 international centers.
MAIN OUTCOME MEASURES
Visual function, retinal imaging, management, and response to treatment were evaluated and correlated.
RESULTS
The prevalence of IRD-related CLV was 0.5%; 54% of patients had isolated retinitis pigmentosa (RP), 21% had early-onset severe retinal dystrophy, and less frequent presentations were syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related dystrophy, and X-linked retinoschisis. The overall age of patients at CLV diagnosis was 30.7 ± 16.9 years (1-83). Twenty-one patients (31%) had unilateral CLV, and the most common retinal features were telangiectasia, exudates, and exudative retinal detachment (ERD) affecting the inferior and temporal retina. Macular edema/schisis was observed in 26% of the eyes, and ERD was observed in 63% of the eyes. Fifty-four patients (81%) had genetic testing, 40 of whom were molecularly solved. Sixty-six eyes (58%) were observed, 17 eyes (15%) were treated with a single modality, and 30 eyes (27%) had a combined approach. Thirty-five eyes (31%) were "good responders," 42 eyes (37%) were "poor responders," 22 eyes (19%) had low vision at baseline and were only observed, and 12 eyes (11%) did not have longitudinal assessment. Twenty-one observed eyes (62%) responded well versus 14 (33%) treated eyes. Final best-corrected visual acuity was significantly worse than baseline (P = 0.002); 40 patients (60%) lost 15 ETDRS letters or more over follow-up in 1 or both eyes, and 21 patients (31%) progressed to more advanced stages of visual impairment.
CONCLUSIONS
Inherited retinal disease-related CLV is rare, sporadic, and mostly bilateral; there is no gender predominance, and it can occur in diverse types of IRD at any point of the disease, with a mean onset in the fourth decade of life. Patients with IRD-related CLV who have decreased initial visual acuity, ERD, CLV changes affecting 2 or more retinal quadrants, and CRB1-retinopathy may be at higher risk of a poor prognosis.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Topics: Humans; Infant; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Aged, 80 and over; Prevalence; Retrospective Studies; Retina; Retinal Detachment; Retinal Dystrophies; Retinitis Pigmentosa; Cone-Rod Dystrophies; Vision, Low; Eye Proteins; Membrane Proteins; Nerve Tissue Proteins
PubMed: 37544434
DOI: 10.1016/j.ophtha.2023.07.027 -
The British Journal of Ophthalmology Nov 2017Vitreous haemorrhage (VH) and retinal detachment (RD) cause a precipitous decline in vision in a subset of patients with X-linked retinoschisis (XLRS), an otherwise a... (Observational Study)
Observational Study
BACKGROUND/AIMS
Vitreous haemorrhage (VH) and retinal detachment (RD) cause a precipitous decline in vision in a subset of patients with X-linked retinoschisis (XLRS), an otherwise a slowly progressive condition. This study aims to report the frequency of macular and peripheral retinal findings in a large cohort of patients with XLRS and to determine whether peripheral retinal findings are associated with VH and RD.
METHODS
A retrospective observational case series was performed in 65 patients with XLRS with a pathogenic variant in retinoschisin 1. Chart review included examination notes, fundus photographs and optical coherence tomography (OCT). Fisher exact tests and univariable logistic regression analysis were used to determine the association between peripheral retinal findings (including retinoschisis, metallic sheen, vascular sheathing, pigmentary changes, white spiculations and vitreous veils) and complications (including VH and RD).
RESULTS
Seven eyes (8%) showed normal macular structure on OCT. Peripheral retinoschisis was significantly associated with both VH and RD. Out of 10 eyes with complications, 9 (90%) had peripheral retinoschisis, compared with 33 out of 116 eyes (28%) without complications (p=0.0014). In addition, each additional peripheral finding increased the odds of RD by a factor of 4.06 (95% CI 1.58 to 10.39, p=0.028). There were no complications in the 28 eyes with a normal periphery (p=0.84) or in the 35 eyes with metallic sheen (p=0.42).
CONCLUSION
The data suggest that patients with peripheral retinoschisis are at increased risk for VH and RD. Furthermore, patients with additional peripheral retinal findings together with peripheral schisis may carry additional risk for RD.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; DNA; DNA Mutational Analysis; Disease Progression; Electroretinography; Eye Proteins; Fundus Oculi; Genotype; Humans; Macula Lutea; Middle Aged; Mutation; Phenotype; Retinoschisis; Retrospective Studies; Tomography, Optical Coherence; Young Adult
PubMed: 28348004
DOI: 10.1136/bjophthalmol-2016-310110 -
Genetics in Medicine : Official Journal... Mar 2022This study aimed to systematically review and summarize gene therapy treatment for monogenic retinal and optic nerve diseases. (Review)
Review
PURPOSE
This study aimed to systematically review and summarize gene therapy treatment for monogenic retinal and optic nerve diseases.
METHODS
This review was prospectively registered (CRD42021229812). A comprehensive literature search was performed in Ovid MEDLINE, Ovid Embase, Cochrane Central, and clinical trial registries (February 2021). Clinical studies describing DNA-based gene therapy treatments for monogenic posterior ocular diseases were eligible for inclusion. Risk of bias evaluation was performed. Data synthesis was undertaken applying Synthesis Without Meta-analysis guidelines.
RESULTS
This study identified 47 full-text publications, 50 conference abstracts, and 54 clinical trial registry entries describing DNA-based ocular gene therapy treatments for 16 different genetic variants. Study summaries and visual representations of safety and efficacy outcomes are presented for 20 unique full-text publications in RPE65-mediated retinal dystrophies, choroideremia, Leber hereditary optic neuropathy, rod-cone dystrophy, achromatopsia, and X-linked retinoschisis. The most common adverse events were related to lid/ocular surface/cornea abnormalities in subretinal gene therapy trials and anterior uveitis in intravitreal gene therapy trials.
CONCLUSION
There is a high degree of variability in ocular monogenic gene therapy trials with respect to study design, statistical methodology, and reporting of safety and efficacy outcomes. This review improves the accessibility and transparency in interpreting gene therapy trials to date.
Topics: Color Vision Defects; Genetic Therapy; Humans; Optic Nerve Diseases; Retina; Retinal Dystrophies
PubMed: 34906485
DOI: 10.1016/j.gim.2021.10.013 -
International Journal of Retina and... 2019Retinoschisis and retinal detachment are distinguished based on features in clinical examination. Even to skilled examiners, some cases may be diagnostic challenges.... (Review)
Review
BACKGROUND
Retinoschisis and retinal detachment are distinguished based on features in clinical examination. Even to skilled examiners, some cases may be diagnostic challenges. Infrared and wide-angle infrared reflectance imaging are relatively new modalities that can provide additional diagnostic information. Non-contact infrared reflectance imaging (also described as near-infrared imaging) highlights sub-retinal features which may otherwise be obscured by standard retinal photography. It is non-invasive and uses the retina's ability to absorb, reflect or scatter infrared light to produce high quality images.
MAIN BODY
The aim of this review is to describe the role of wide-field infrared imaging in screening, diagnosing, and monitoring structural peripheral retinal disorders including retinoschisis, retinal detachment or combined retinoschisis rhegmatogenous detachments. Infrared imaging can also be used to monitor anterior segment inflammation. Heidelberg Wide-Field Module lens and Heidelberg Spectralis HRA + OCT machine (Heidelberg Engineering, Heidelberg, Germany) were used to obtain noncontact, wide-field infrared images on each study eye. Pseudocolor photos were captured by Optos Optomap (Optos, Inc, Massachusetts, USA).
CONCLUSION
Wide angle infrared imaging offers a quick, noncontact, and noninvasive way to help specialists accurately diagnose, monitor for progression, and educate patients about retinal detachment, retinoschisis and even anterior segment inflammation.
PubMed: 31890288
DOI: 10.1186/s40942-019-0188-5 -
JAMA Ophthalmology Jan 2016
Topics: Adult; Animals; Asymptomatic Infections; Cysticercosis; Cysticercus; Cysts; Diagnosis, Differential; Eye Infections, Parasitic; Humans; Male; Microscopy, Acoustic; Retinal Diseases; Retinoschisis; Ultrasonography
PubMed: 26540359
DOI: 10.1001/jamaophthalmol.2015.2522 -
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