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American Journal of Ophthalmology Case... Mar 2022To report a case of preretinal hemorrhage from extraretinal neovascularization related to capillary non-perfused retina within a large schisis in a pediatric patient...
PURPOSE
To report a case of preretinal hemorrhage from extraretinal neovascularization related to capillary non-perfused retina within a large schisis in a pediatric patient with X-linked retinoschisis (XLRS).
OBSERVATIONS
A 4-year old male with an mutation and XLRS presented with preretinal and vitreous hemorrhage in the right eye. Retinal imaging, including wide angle fluorescein angiography (FA) and optical coherence tomography (OCT), showed vitreoretinal traction on extraretinal neovascularization and capillary non-perfused retina in the schisis cavity. Laser treatment to the non-perfused retina within the schisis was successful in reducing extraretinal neovascularization.
CONCLUSIONS
Vitreous hemorrhage is a well-known occurrence in XLRS. Imaging using wide angle FA and OCT were helpful to determine the causes of hemorrhage in order to develop a management plan.
PubMed: 35198819
DOI: 10.1016/j.ajoc.2022.101395 -
Journal of Vitreoretinal Diseases 2022The rapid and noninvasive nature of optical coherence tomography angiography (OCTA) makes it a potentially valuable tool for imaging the retina in children. With the... (Review)
Review
PURPOSE
The rapid and noninvasive nature of optical coherence tomography angiography (OCTA) makes it a potentially valuable tool for imaging the retina in children. With the optimization of tabletop systems and the development of experimental handheld OCTA devices, there is expanded potential for OCTA in the clinic and the operating room. This article reviews the utility of OCTA in some of the most common pediatric retinal disorders.
METHODS
A thorough computerized PubMed search was performed to review relevant published journal articles to contextualize and identify the role of OCTA in common retinal disorders with vascular involvement affecting children. Pertinent results and findings from original investigations and case reports were summarized.
RESULTS
The ability to quickly collect both qualitative and quantitative information about retinal microvasculature, in both the clinic and operating room settings, with OCTA, has led to the uncovering of microvascular features and morphologic changes in many pediatric retinal disorders such as Coats Disease, familial exudative vitreoretinopathy, incontinentia pigmenti, sickle cell retinopathy, Stargardt Disease, X-linked juvenile retinoschisis, retinopathy of prematurity, diabetic retinopathy in type 1 diabetes, pediatric retinal tumors, and choroidal neovascularization.
CONCLUSIONS
OCTA is a relevant tool to aid early detection, guide intervention, monitor treatment response, and understand pathogenesis in a number of pediatric retinal disorders.
PubMed: 37008546
DOI: 10.1177/24741264221083873 -
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 -
Stem Cell Research & Therapy Nov 2023Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration and impose a considerable economic burden on patients and society, making... (Review)
Review
Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration and impose a considerable economic burden on patients and society, making efforts to cure blindness imperative. Transgenic animals mimicking human genetic diseases have long been used as a primary research tool to decipher the underlying pathogenesis, but there are still some obvious limitations. As an alternative strategy, patient-derived induced pluripotent stem cells (iPSCs), particularly three-dimensional (3D) organoid technology, are considered a promising platform for modeling different forms of IRDs, including retinitis pigmentosa, Leber congenital amaurosis, X-linked recessive retinoschisis, Batten disease, achromatopsia, and best vitelliform macular dystrophy. Here, this paper focuses on the status of patient-derived iPSCs and organoids in IRDs in recent years concerning disease modeling and therapeutic exploration, along with potential challenges for translating laboratory research to clinical application. Finally, the importance of human iPSCs and organoids in combination with emerging technologies such as multi-omics integration analysis, 3D bioprinting, or microfluidic chip platform are highlighted. Patient-derived retinal organoids may be a preferred choice for more accurately uncovering the mechanisms of human retinal diseases and will contribute to clinical practice.
Topics: Animals; Humans; Induced Pluripotent Stem Cells; Retina; Retinal Degeneration; Retinitis Pigmentosa; Organoids
PubMed: 38012786
DOI: 10.1186/s13287-023-03564-5 -
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 -
Journal of Glaucoma May 2024Peripapillary retinoschisis may bias optical coherence tomography's monitoring of glaucoma progression. Its impact on glaucoma still remains uncertain. Only two out of...
PRCIS
Peripapillary retinoschisis may bias optical coherence tomography's monitoring of glaucoma progression. Its impact on glaucoma still remains uncertain. Only two out of the ten included studies illustrated a correlation between peripapillary retinoschisis and glaucoma progression.
PURPOSE
The frequent use of optical coherence tomography increased the detection of peripapillary retinoschisis, which poses challenges in the follow-up of glaucoma patients. This systematic review aims to summarize the literature regarding peripapillary retinoschisis in glaucoma, exploring its prevalence, impact on disease, and clinical management implications.
METHODS
We searched PubMed, Embase, Web of Science and Scopus with tailored search queries for each platform. All studies had to report peripapillary retinoschisis in glaucoma patients. Exclusion criteria included studies with less than 10 eyes, studies focusing on schisis outside the disc area, with concomitant retinal or optic nerve lesions, with animals, reviews, studies written in non-English language and congress abstracts.
RESULTS
Ten studies were included, of which 7 were case-control, one was a cohort study and two were case series.Six studies showed that peripapillary retinoschisis often overlapped pre-existing retinal nerve fiber layer defects. One study reported that the de novo development of peripapillary retinoschisis was more frequent in eyes with glaucoma progression than in eyes without progression.Visual field findings were inconsistent, with just one study (out of six) showing that glaucoma patients with peripapillary retinoschisis experienced faster visual field deterioration than those without it. Overall, solely two studies (out of seven) associated peripapillary retinoschisis with faster glaucoma progression.
CONCLUSIONS
Peripapillary retinoschisis biases optical coherence tomography analysis in glaucoma. Caution is needed against overestimation of retinal nerve fiber layer thickness when peripapillary retinoschisis develops, and misinterpretation of its resolution as rapid progression. Peripapillary retinoschisis' exact impact on glaucoma progression remains unclear.
PubMed: 38771637
DOI: 10.1097/IJG.0000000000002437 -
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 -
Current Opinion in Ophthalmology May 2022This review aims to introduce stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) and its differential diagnosis. We summarize findings from case... (Review)
Review
PURPOSE OF REVIEW
This review aims to introduce stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) and its differential diagnosis. We summarize findings from case reports and series published in the last few years on the clinical and imaging findings in SNIFR.
RECENT FINDINGS
SNIFR presents as either a unilateral or bilateral macular star on fundus examination without clinical or imaging evidence of exudation or frank vitreomacular traction. optical coherence tomography (OCT) imaging shows schisis cavities in the Henle fibre and outer plexiform layers that correspond to the stellate en face findings. Visual acuity is usually minimally affected, and the presence of significant vision loss should prompt high clinical suspicion for alternate diagnoses.
SUMMARY
SNIFR is a recently characterized clinical entity that serves as an important addition to the differential diagnosis of a macular star. It is a diagnosis of exclusion and should be distinguished from other causes of macular star such as neuroretinitis, vitreomacular traction, ocular manifestations of malignant hypertension, congenital juvenile X-linked macular schisis, myopic maculopathy, optic pit maculopathy, nicotinic acid maculopathy or taxane maculopathy among others.
Topics: Diagnosis, Differential; Fluorescein Angiography; Humans; Macular Degeneration; Retinoschisis; Tomography, Optical Coherence; Vision Disorders
PubMed: 35239516
DOI: 10.1097/ICU.0000000000000844