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Indian Journal of Ophthalmology Jan 2020
Topics: Adult; Eye Proteins; Humans; Male; Retina; Retinoschisis; Tomography, Optical Coherence
PubMed: 31856528
DOI: 10.4103/ijo.IJO_1521_19 -
Ophthalmic Genetics Oct 2023An 18-year old highly myopic woman presented with bilateral retinoschisis associated with a unilateral macular hole in the right eye and vitreomacular traction in the...
INTRODUCTION
An 18-year old highly myopic woman presented with bilateral retinoschisis associated with a unilateral macular hole in the right eye and vitreomacular traction in the left eye.
METHODS
Genetic studies disclosed a heterozygous pathogenic variant in the KCNJ13 gene was identified (c.484C>T (p.Arg162Trp)), consistent with a diagnosis of snowflake vitreoretinal degeneration (SVD).
RESULTS
While there were no corneal guttata, juvenile cataracts, or perivascular sheathing in this case, salient features of SVD included a fibrillar vitreous structure, crystalline retinopathy, and flattened optic nerves. The patient developed a FTMH in the left eye at 17 months follow up, followed by a rhegmatogenous retinal detachment (RRD) requiring 2 surgical repairs.
CONCLUSION
This case expands on the spectrum of clinical features in SVD, including retinoschisis and FTMH. It also characterizes optical coherence tomography findings in this rare disease entity. We emphasize the importance of using panel-based genetic testing to clinically distinguish and further define atypical vitreoretinopathies.
Topics: Female; Humans; Adolescent; Retinoschisis; Vitreous Body; Retinal Degeneration; Retinal Detachment; Retinal Perforations; Tomography, Optical Coherence
PubMed: 36440807
DOI: 10.1080/13816810.2022.2149816 -
Retinal Cases & Brief Reports Nov 2023To present two cases of concomitant retinal neovascularization (RNV) in acquired peripheral retinoschisis and analyze its characteristics on optical coherence tomography... (Review)
Review
PURPOSE
To present two cases of concomitant retinal neovascularization (RNV) in acquired peripheral retinoschisis and analyze its characteristics on optical coherence tomography angiography and based on a literature review.
METHODS
This was an observational, retrospective case study.
RESULTS
Case 1 presented with bullous retinoschisis and RNV near the schisis cavity. Optical coherence tomography angiography revealed no angioflow into the retinal arterioles of the cavity. An arterial filling delay to the retinoschisis with extensive leakage from the RNV was noted on fluorescein angiography. Case 2 involved the superficial retinoschisis and telangiectatic vessels inside the schisis cavity. Optical coherence tomography angiography revealed damage to the superficial capillary plexus of the cavity, absence of angioflow to the inner schisis layer, and increased angioflow to the RNV. Fluorescein angiography showed focal leakage from the RNV and diffuse leakage from telangiectasia. No vision-threatening complications were identified in either patient up to the last follow-up, subsequent to laser photocoagulation.
CONCLUSION
Acquired peripheral retinoschisis is associated with RNV. Inner retinal ischemia caused by hemodynamic resistance or a damaged superficial capillary plexus can interrupt angioflow to the inner schisis retinal layer on optical coherence tomography angiographic findings and develop RNV inside or outside the retinoschisis.
Topics: Humans; Retinoschisis; Retinal Neovascularization; Tomography, Optical Coherence; Retrospective Studies; Retinal Diseases; Fluorescein Angiography; Ischemia
PubMed: 35594561
DOI: 10.1097/ICB.0000000000001292 -
Translational Vision Science &... Jun 2022The purpose of this study was to investigate the clinical characteristics of paravascular abnormalities (PVAs) and retinoschisis, and their associations with choroidal...
PURPOSE
The purpose of this study was to investigate the clinical characteristics of paravascular abnormalities (PVAs) and retinoschisis, and their associations with choroidal thickness (ChT) in young highly myopic (HM) adults.
METHODS
A total number of 645 eyes were included. Paravascular microfolds (PMs), paravascular cystoid spaces (PCs), paravascular lamellar holes (PLHs), and retinoschisis were detected using swept-source optical coherence tomography. Their associations with macular ChT and risk factors were analyzed.
RESULTS
PMs, PCs, and PLHs were detected in 203 (31.5%), 141 (21.9%), and 30 (4.7%) eyes, respectively. Retinoschisis was found in 50 (7.8%) eyes, 43 (86.0%) of which were located around the retinal vessels surrounding the optic disc. A decreasing trend of macular ChT (P < 0.001) was observed in the eyes with PMs only, with both PCs and PMs, and with PLHs, PCs, and PMs. After adjustments for age, sex, and axial length (AL), the presence of PCs, PLHs, or retinoschisis around the optic disc was negatively associated with macular ChT (all P < 0.05). Eyes with longer AL, incomplete posterior vitreous detachment (PVD), and myopic atrophic maculopathy (MAM) were more likely to have PCs (all P < 0.01) and retinoschisis around the optic disc (all P < 0.05).
CONCLUSIONS
PVAs were observed in approximately one third of the young HM adults in this study. The presence of PCs, PLHs, or retinoschisis around the optic disc was associated with thinner macular ChT. Eyes with longer AL, incomplete PVD, and MAM may be at risk of developing PVAs and retinoschisis around the optic disc.
TRANSLATIONAL RELEVANCE
PCs, PLHs, and retinoschisis around the optic disc could serve as early indicators for myopia progression.
Topics: Adult; Choroid; Humans; Myopia, Degenerative; Retinal Vessels; Retinoschisis; Tomography, Optical Coherence; Vitreous Detachment
PubMed: 35727187
DOI: 10.1167/tvst.11.6.18 -
Journal of Ophthalmology 2016Purpose. To investigate peripapillary retinoschisis and its effect on retinal nerve fiber layer (RNFL) thickness measurements by using spectral-domain optical coherence...
Purpose. To investigate peripapillary retinoschisis and its effect on retinal nerve fiber layer (RNFL) thickness measurements by using spectral-domain optical coherence tomography (SD-OCT) in glaucomatous eyes. Methods. Circumpapillary RNFL (cpRNFL) B-scan images of 940 glaucoma patients (Group 1) and 801 glaucoma-suspect patients (Group 2) obtained by SD-OCT were reviewed. The structural and clinical characteristics of the retinoschisis were investigated. The RNFL thickness measurements taken at the time of retinoschisis diagnosis and at the follow-up visits were also compared. Results. Twenty-nine retinoschisis areas were found in 26 of the 940 glaucoma patients (3.1%) in Group 1 and seven areas were found in 801 patients (0.87%) in Group 2. In glaucomatous eyes, the retinoschisis was attached to the optic disc and overlapped with the RNFL defect. At the time of retinoschisis, the RNFL thickness was statistically greater in the inferior temporal quadrant when compared with the follow-up scans (p < 0.001). No macular involvement or retinal detachment was observed. Conclusion. The present study investigated 33 peripapillary retinoschisis patients. Increase in RNFL thickness measurements was observed at the time of retinoschisis. It is important to examine the cpRNFL B-scan images of glaucoma patients so that the RNFL thickness is not overestimated.
PubMed: 27069674
DOI: 10.1155/2016/1612720 -
Archivos de La Sociedad Espanola de... Dec 2022X-linked retinoschisis (XLR) is a cause of retinal degeneration that affects males at an early age. X-linked disorders classically affect only males. We present the case...
X-linked retinoschisis (XLR) is a cause of retinal degeneration that affects males at an early age. X-linked disorders classically affect only males. We present the case of a 10-year-old female with the full spectrum of the pathology. BCVA 0.7 OU. Optical coherence tomography (OCT) showed bilateral foveal alteration with cystic appearance. The genetic study identified the variant c.644A>T (p.Glu215Gly) in the RS1 gene in homozygosis, associated with retinoschisis with X-linked recessive mode of inheritance. XLR is a condition that has a great variety in the severity of the disease and there is no correlation between the latter and the progression of the pathology. The disease has been described in a limited number of females mainly in families with high degree of consanguinity.
Topics: Male; Female; Humans; Child; Retinoschisis; Fovea Centralis; Tomography, Optical Coherence
PubMed: 36341910
DOI: 10.1016/j.oftale.2022.09.002 -
Ophthalmic Genetics Oct 2020Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical...
BACKGROUND
Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS.
MATERIALS AND METHODS
Physical and complete ophthalmic examination, molecular diagnosis.
RESULTS
Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and heart block. At age 21 he was incidentally found to have retinoschisis on optical coherence tomography that remained stable over three years follow-up. Sequencing of the gene revealed no pathogenic variants, effectively ruling out co-existing X-linked retinoschisis.
CONCLUSIONS
These findings suggest retinoschisis may be a rare manifestation of KSS. A trial of a carbonic anhydrase inhibitor was frustrated by coexisting corneal edema associated with the condition.
Topics: Adult; Humans; Kearns-Sayre Syndrome; Male; Prognosis; Retinoschisis; Tomography, Optical Coherence; Young Adult
PubMed: 32787478
DOI: 10.1080/13816810.2020.1799416 -
Journal of Nepal Health Research Council Jun 2022X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical...
X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors. 18-year female presented with bilateral blurred vision for two years. Best corrected vision was 6/24 right eye and 6/12 left eye. Fundus examination, ocular coherence tomography and fundus fluorescein angiography supported the diagnosis. Systemic and topical carbonic-anhydrase inhibitors were advised and followed for six months with scrutinization of possible adverse drug reaction. Juvenile retinoschisis being rare among females, prompt diagnosis and management helps for the restoration of the vision and foveal anatomy. Keywords: Carbonic anhydrase inhibitors; female; retinoschisin ; X linked juvenile retinoschisis.
Topics: Carbonic Anhydrase Inhibitors; Female; Humans; Nepal; Retinoschisis; Tomography, Optical Coherence
PubMed: 35945887
DOI: 10.33314/jnhrc.v20i01.3757 -
Journal Francais D'ophtalmologie Nov 2019
Topics: Adolescent; Fluorescein Angiography; Humans; Male; Retinoschisis; Tomography, Optical Coherence
PubMed: 31280912
DOI: 10.1016/j.jfo.2019.05.010 -
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