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Retinal Cases & Brief ReportsTo describe the treatment and natural history of a patient with complicated congenital retinoschisis.
PURPOSE
To describe the treatment and natural history of a patient with complicated congenital retinoschisis.
METHODS
A retrospective case report. A 10-month-old boy with congenital retinoschisis presented with tractional retinal detachments and foveal schisis in both eyes.
RESULTS
On presentation, vision was decreased in both eyes with presumed amblyopia of the left eye. Funduscopic examination revealed bilateral foveal schisis and tractional retinal detachment involving the macula. Follow-up examination revealed superior retinal dragging and peripheral ischemia on fluorescein angiogram in both eyes. Nine months after presentation, combined rhegmatogenous and tractional retinal detachment developed in the right eye and was treated by scleral buckle. After vitrectomy for nonclearing vitreous hemorrhage in the left eye, a combined rhegmatogenous and tractional retinal detachment developed. Vitrectomy and lensectomy with silicone oil was performed. At 6 years of follow-up, both retinas were attached and foveal schisis had resolved.
CONCLUSION
Sight threatening complications of congenital retinoschisis include retinal detachment and vitreous hemorrhage. Vitrectomy and/or scleral buckling may prevent progression of vision loss and promote resolution of schisis.
Topics: Fovea Centralis; Humans; Infant; Male; Retinal Detachment; Retinoschisis; Retrospective Studies; Scleral Buckling; Treatment Outcome; Vitrectomy; Vitreous Hemorrhage
PubMed: 27680778
DOI: 10.1097/ICB.0000000000000444 -
International Ophthalmology Clinics Oct 2021
Topics: Eye Proteins; Genetic Therapy; Humans; Retinoschisis; Tomography, Optical Coherence
PubMed: 34584055
DOI: 10.1097/IIO.0000000000000373 -
Survey of Ophthalmology 2018An 81-year-old man with bilateral progressively blurry vision and optic disc swelling was referred for evaluation. Examination and ancillary testing confirmed a...
An 81-year-old man with bilateral progressively blurry vision and optic disc swelling was referred for evaluation. Examination and ancillary testing confirmed a diagnosis of bilateral vitreopapillary traction accompanied by unilateral tractional retinoschisis in the right eye. Pars plana vitrectomy was performed to release the traction in both the eyes. Visual acuity improved in the right eye and stabilized in the left eye. Retinoschisis in the right eye resolved. The visual field improved in both the eyes although the left eye demonstrated a persistent hemifield defect likely attributable to a prior optic neuropathy. Distinguishing vitreopapillary traction optic neuropathy from nonarteritic anterior ischemic optic neuropathy is discussed.
Topics: Aged, 80 and over; Humans; Male; Papilledema; Retinoschisis; Traction; Treatment Outcome; Vitrectomy; Vitreous Body; Vitreous Detachment
PubMed: 29705174
DOI: 10.1016/j.survophthal.2018.04.004 -
Ophthalmology May 2022To examine the genetic and clinical features in children and adults with X-linked retinoschisis (XLRS). (Observational Study)
Observational Study
PURPOSE
To examine the genetic and clinical features in children and adults with X-linked retinoschisis (XLRS).
DESIGN
Single-center consecutive, retrospective, observational study.
PARTICIPANTS
Adults and children with molecularly confirmed XLRS followed up between 1999 and 2020.
METHODS
Analysis of genetic, clinical, and retinal imaging findings, including OCT and fundus autofluorescence (FAF), cross-sectionally and longitudinally, was performed.
MAIN OUTCOMES MEASURES
RS1, variants, type of variants and phenotype correlations, age of onset, complications rates and types, fundoscopy findings, OCT metrics, FAF patterns, correlations including between best corrected visual acuity (BCVA) and age, and OCT characteristics.
RESULTS
One hundred thirty-two male patients were identified harboring 66 retinoschisin 1 variants, with 7 being novel. The mean age at onset was 16.5 years (range, 0-58 years). Seventy-one patients (71/75 [94.7%]) were symptomatic at presentation; all had decreased best-corrected visual acuity (BCVA). Funduscopy findings were symmetric in 104 patients (104/108 [96.3%]), with the most common finding being macular schisis (82.4%), whereas peripheral retinoschisis was present in 38.9% and macular atrophy was present in 11.1%. Twenty patients (18.5%) demonstrated complications (vitreous hemorrhage, retinal detachment, or both). Mean BCVA was 0.65 logarithm of the minimum angle of resolution (logMAR; Snellen equivalent, 20/89) in the right eye and 0.64 logMAR (Snellen equivalent, 20/87) in the left eye. Mean BCVA change over a mean interval of 6.7 years was 0.04 and 0.01 logMAR for right and left eyes, respectively. A normal FAF pattern was identified in 16 of 106 eyes (15.1%); 45 eyes (42.5%) showed a spoke-wheel pattern, 13 eyes (12.3%) showed foveal hyperautofluorescence, and 18 eyes (17.0%) showed a central reduction in signal. In total, 14 patients demonstrated evidence of progression on FAF over time. On OCT, foveoschisis was observed in 172 eyes (172/215 [80%]), parafoveal schisis was observed in 171 eyes (171/215 [79.5%]), and foveal atrophy was observed in 44 eyes (44/215 [20.5%]). Cystoid changes were localized to the inner nuclear layer (172/181 eyes [95%]), the outer nuclear layer (97/181 [53.6%]), and the ganglion cell layer (92/181 [50.8%]). Null variants were associated with worse final BCVA and aforementioned complications.
CONCLUSIONS
X-linked retinoschisis is highly phenotypically variable, but with relative foveal and BCVA preservation until late adulthood, allowing more accurate prognostication. The slowly (often minimally) progressive disease course may pose a challenge in identification of early end points for therapeutic trials aimed at altering the kinetics of degeneration.
Topics: Adult; Atrophy; Electroretinography; Eye Proteins; Humans; Male; Retina; Retinoschisis; Retrospective Studies; Tomography, Optical Coherence; Vision Disorders
PubMed: 34822951
DOI: 10.1016/j.ophtha.2021.11.019 -
Progress in Retinal and Eye Research Mar 2022X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a prominent macular component, that affects males and generally spares heterozygous... (Review)
Review
X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a prominent macular component, that affects males and generally spares heterozygous females because of X-linked recessive inheritance. It results from loss-of-function RS1 gene mutations on the X-chromosome. XLRS causes bilateral reduced acuities from young age, and on clinical exam and by ocular coherence tomography (OCT) the neurosensory retina shows foveo-macular cystic schisis cavities in the outer plexiform (OPL) and inner nuclear layers (INL). XLRS manifests between infancy and school-age with variable phenotypic presentation and without reliable genotype-phenotype correlations. INL disorganization disrupts synaptic signal transmission from photoreceptors to ON-bipolar cells, and this reduces the electroretinogram (ERG) bipolar b-wave disproportionately to photoreceptor a-wave changes. RS1 gene expression is localized mainly to photoreceptors and INL bipolar neurons, and RS1 protein is thought to play a critical cell adhesion role during normal retinal development and later for maintenance of retinal structure. Several independent XLRS mouse models with mutant RS1 were created that recapitulate features of human XLRS disease, with OPL-INL schisis cavities, early onset and variable phenotype across mutant models, and reduced ERG b-wave to a-wave amplitude ratio. The faithful phenotype of the XLRS mouse has assisted in delineating the disease pathophysiology. Delivery to XLRS mouse retina of an AAV8-RS1 construct under control of the RS1 promoter restores the retinal structure and synaptic function (with increase of b-wave amplitude). It also ameliorates the schisis-induced inflammatory microglia phenotype toward a state of immune quiescence. The results imply that XLRS gene therapy could yield therapeutic benefit to preserve morphological and functional retina particularly when intervention is conducted at earlier ages before retinal degeneration becomes irreversible. A phase I/IIa single-center, open-label, three-dose-escalation clinical trial reported a suitable safety and tolerability profile of intravitreally administered AAV8-RS1 gene replacement therapy for XLRS participants. Dose-related ocular inflammation occurred after dosing, but this resolved with topical and oral corticosteroids. Systemic antibodies against AAV8 increased in dose-dependent fashion, but no antibodies were observed against the RS1 protein. Retinal cavities closed transiently in one participant. Technological innovations in methods of gene delivery and strategies to further reduce immune responses are expected to enhance the therapeutic efficacy of the vector and ultimate success of a gene therapy approach.
Topics: Animals; Electroretinography; Eye Proteins; Female; Genetic Therapy; Humans; Male; Mice; Retina; Retinoschisis
PubMed: 34390869
DOI: 10.1016/j.preteyeres.2021.100999 -
Graefe's Archive For Clinical and... Feb 2023To characterize retinoschisis in a large series using spectral domain optical coherence tomography (SD-OCT), including rates of schisis detachment and macular...
PURPOSE
To characterize retinoschisis in a large series using spectral domain optical coherence tomography (SD-OCT), including rates of schisis detachment and macular involvement in cases of peripheral retinoschisis.
METHODS
In this retrospective, cross-sectional, descriptive study, consecutive patients with diagnosis of retinoschisis in at least one eye were identified using billing codes between January 2012 and May 2021. Charts were reviewed to verify diagnosis of retinoschisis or schisis detachment. SD-OCT and clinical examination was used to identify frequency of macular schisis, peripheral schisis, and schisis detachment, and characteristics of retinoschisis including frequency of inner and outer wall breaks, distribution of layers split, and location of involvement of peripheral pathology. SD-OCT images of insufficient quality were excluded from the pertinent analysis.
RESULTS
281 eyes of 191 patients were included. 195 (69.4%) eyes had peripheral retinoschisis, 15 (5.3%) had schisis detachment, 66 (23.5%) had macular retinoschisis alone, and 5 (1.8%) had combined macular and peripheral retinoschisis. Of the eyes without macular retinoschisis, 7.0% had schisis detachment. Of the remainder, 4 (2.1%) had inner wall breaks, and 24 (12.3%) had outer wall breaks. In eyes with peripheral retinoschisis, splitting occurred in the outer plexiform layer in 58.9%, the retinal nerve fiber layer in 8.9%, a combination of layers in 26.8%, and indeterminate in 5.4%. Location of peripheral involvement was inferotemporal in 58.5%, superotemporal in 14.1%, temporal in 13.7%, and inferior in 12.2%.
CONCLUSION
SD-OCT helped to identify the presence of schisis detachment and breaks, confirmed diagnosis in challenging cases, and demonstrated the layer of splitting within the neurosensory retina. This series represents the largest such study to date.
Topics: Humans; Retinoschisis; Tomography, Optical Coherence; Retrospective Studies; Cross-Sectional Studies; Retina
PubMed: 35984486
DOI: 10.1007/s00417-022-05801-8 -
Seminars in Ophthalmology 2019Microperimetry (MP) is used to assess visual sensitivity mediated by the central retina. As such, MP performance is a candidate outcome measure for gene therapy trials.... (Review)
Review
Microperimetry (MP) is used to assess visual sensitivity mediated by the central retina. As such, MP performance is a candidate outcome measure for gene therapy trials. Herein, we review MP results in three inherited retinal disorders for which gene therapy trials have been initiated-choroideremia, Stargardt disease, and X-linked juvenile retinoschisis. Each of these disorders typically presents in childhood and each has distinct effects on the central retina. Our review indicates that microperimetry is feasible in each of these conditions. The MP sensitivity maps vary among conditions consistent with known effects of each of the three conditions. There is, however, within each of the three disorders considerable variability in fixation stability and in the pattern of sensitivity loss. Microperimetry is a valuable tool for monitoring functional aspects of central retina in an individual patient, especially in combination with other modalities such as OCT, autofluorescence, and acuity and thus may contribute to evaluating the efficacy of gene treatments. Variability of the MP parameters raises some cautions in application of MP as an outcome measure in treatment trials that may have small sample sizes. Nonetheless, we suspect that MP will continue to have a rightful place in future gene therapy trials.
Topics: Choroideremia; Clinical Trials as Topic; Fixation, Ocular; Humans; Macular Degeneration; Retinoschisis; Stargardt Disease; Visual Field Tests; Visual Fields
PubMed: 31146612
DOI: 10.1080/08820538.2019.1622025 -
Journal Francais D'ophtalmologie Nov 2023
Topics: Humans; Tomography, Optical Coherence; Retinoschisis; Macula Lutea; Male; Female
PubMed: 37625995
DOI: 10.1016/j.jfo.2023.03.032 -
Eye (London, England) May 2015To review the literature on epidemiology, clinical features, diagnostic imaging, natural history, management, therapeutic approaches, and prognosis of myopic... (Review)
Review
To review the literature on epidemiology, clinical features, diagnostic imaging, natural history, management, therapeutic approaches, and prognosis of myopic foveoschisis. A systematic Pubmed search was conducted using search terms: myopia, myopic, staphyloma, foveoschisis, and myopic foveoschisis. The evidence base for each section was organised and reviewed. Where possible an authors' interpretation or conclusion is provided for each section. The term myopic foveoschisis was first coined in 1999. It is associated with posterior staphyloma in high myopia, and is often asymptomatic initially but progresses slowly, leading to loss of central vision from foveal detachment or macular hole formation. Optical coherence tomography is used to diagnose the splitting of the neural retina into a thicker inner layer and a thinner outer layer, but compound variants of the splits have been identified. Vitrectomy with an internal limiting membrane peel and gas tamponade is the preferred approach for eyes with vision decline. There has been a surge of new information on myopic foveoschisis. Advances in optical coherence tomography will continually improve our understanding of the pathogenesis of retinal splitting, and the mechanisms that lead to macular damage and visual loss. Currently, there is a good level of consensus that surgical intervention should be considered when there is progressive visual decline from myopic foveoschisis.
Topics: Diagnostic Techniques, Ophthalmological; Endotamponade; Epiretinal Membrane; Humans; Myopia, Degenerative; Prognosis; Retinoschisis; Vitrectomy
PubMed: 25744445
DOI: 10.1038/eye.2014.311 -
Retina (Philadelphia, Pa.) Jan 2016
Topics: Endotamponade; Epiretinal Membrane; Female; Fluorocarbons; Humans; Male; Myopia, Degenerative; Retinoschisis; Vitrectomy
PubMed: 26702606
DOI: 10.1097/IAE.0000000000000916