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Journal of Clinical Medicine Jul 2023Peripapillary intrachoroidal cavitation (PICC) is a yellow-orange lesion, located at the outer border of the myopic conus. First described as a localized detachment of... (Review)
Review
Peripapillary intrachoroidal cavitation (PICC) is a yellow-orange lesion, located at the outer border of the myopic conus. First described as a localized detachment of the retinal pigment epithelium, its intrachoroidal location was later revealed, justifying its current name. PICC is related to other myopic complications such as posterior staphyloma, but its pathogenesis is not clear to date. Although it has been considered a benign condition, most eyes with PICC show visual field defects, which leads to diagnostic uncertainty as these deficits resemble those seen in glaucoma. Furthermore, eyes with PICC may develop macular detachment with retinoschisis. Finally, misdiagnosis of PICC as a metastatic choroidal tumor may lead to unnecessary and anxiety-inducing investigations. Advances in optical coherence tomography (OCT) imaging have improved the visualization of ocular structures, contributing to the understanding of PICC. Recently, high optic nerve sheath traction forces during eye movements in highly myopic eyes have been suggested as promoters of PICC, renewing interest around this condition. However, a review of PICC is still lacking. Therefore, we aimed to provide a concise yet comprehensive overview of the current state of the art, focusing on OCT illustrations, pathophysiology and potential future perspectives based on the biomechanics of the optic nerve.
PubMed: 37510829
DOI: 10.3390/jcm12144712 -
International Ophthalmology Clinics Oct 2021
Topics: Eye Proteins; Genetic Therapy; Humans; Retinoschisis; Tomography, Optical Coherence
PubMed: 34584055
DOI: 10.1097/IIO.0000000000000373 -
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 -
Journal of Clinical Medicine May 2023X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to...
X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS ( = 4), and patients referred to a clinic for inherited retinal diseases ( = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies.
PubMed: 37297924
DOI: 10.3390/jcm12113729 -
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 -
Drug Delivery Dec 2023Ocular posterior segment diseases such as uveitis, X-linked juvenile retinoschisis, or age-related macular degeneration usually result in progressive and irreversible... (Review)
Review
Ocular posterior segment diseases such as uveitis, X-linked juvenile retinoschisis, or age-related macular degeneration usually result in progressive and irreversible vision loss. Although intravitreal injection is the main way to deliver drugs to the posterior eye, it still has shortcomings as an invasive operation. Nanocontrolled drug delivery technology is a promising option to avoid frequent injections. Due to the particularity of the human intraocular structure, drugs have unique pharmacokinetic characteristics in the eye. Various nanoparticles have been successfully investigated in experimental studies for vitreous injection, with advantages and drawbacks. Here, we introduce an ideal nanopolymer modifier to build nanodelivery systems in vitreous cavities. Hyaluronic acid (HA) is a natural polysaccharide with a broad molecular weight range, negatively charged surface, ligand-receptor binding capabilities, and hyaluronidase breakdown capability. Advances in CD44 receptor targeting for HA-based nanoparticles can improve mobility and penetration in the vitreous and retina, stabilize the nanoparticles, and regulate drug release. This review summarizes the intravitreal administration of nanoplatforms based on HA and the benefits of HA in drug delivery systems.
Topics: Humans; Hyaluronic Acid; Pharmaceutical Preparations; Retina; Drug Delivery Systems; Nanoparticles
PubMed: 37194147
DOI: 10.1080/10717544.2023.2204206 -
Strabismus Mar 2020: To describe Optical Coherence Tomography (OCT) findings of the macula in patients with nystagmus, mainly the relationship between spectral-domain OCT (SD-OCT) images...
: To describe Optical Coherence Tomography (OCT) findings of the macula in patients with nystagmus, mainly the relationship between spectral-domain OCT (SD-OCT) images and nystagmus in macular dysplasia.: In this study, 17 cases (29 eyes) with congenital macular abnormalities in patients with albinism, macular heterotopias, congenital aniridia, foveal hypoplasia, congenital macular coloboma, and congenital retinoschisis were retrospectively analyzed. Patients underwent multimodal retinal imaging examinations including ultra-widefield fundus imaging, SD-OCT, autofluorescence, and visual field. When the pit was not clearly presented, SD-OCT imaging was centered at the expected foveal center.: In cases of oculocutaneous albinism SD-OCT showed the absence of the foveal pit and increased foveal thickness, with nystagmus. Their fundus revealed a lack of pigment in retinal pigment epithelium with visible large choroidal vessels. SD-OCT in congenital aniridia showed a planar fovea in the macula with the lack of a foveal pit and nystagmus. SD-OCT showed the absence of a foveal pit in foveal hypoplasia with nystagmus. In cases of monocular macular heterotopia, no nystagmus was found; the fellow eye had good vision and the macular morphology was usually normal. Nystagmus was not found in patients with congenital macular coloboma and congenital retinoschisis in this study.: SD-OCT plays an important role in the diagnosis and prognosis of macular dysplasia in patients with nystagmus. Absence of a normal foveal pit is an OCT-imaging characteristic of macular dysplasia associated with nystagmus.
Topics: Adult; Female; Humans; Male; Multimodal Imaging; Nystagmus, Pathologic; Optical Imaging; Retinal Dysplasia; Retrospective Studies; Tomography, Optical Coherence; Vision Disorders; Visual Field Tests; Visual Fields
PubMed: 31566469
DOI: 10.1080/09273972.2019.1668028 -
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 -
Journal of Current Ophthalmology Sep 2019To evaluate the multimodal imaging including optical coherence tomography angiography (OCTA) findings in patients with posterior microphthalmos (PM).
PURPOSE
To evaluate the multimodal imaging including optical coherence tomography angiography (OCTA) findings in patients with posterior microphthalmos (PM).
METHODS
In an observational case series, four eyes of two patients, eight and twenty-three years old, with clinical proven PM underwent complete ophthalmic examination, including refraction, fluorescein angiography, optical coherence tomography (OCT), OCTA, B-scan ultrasonography, axial length measurement using IOL Master optical measuring, and Pentacam evaluation.
RESULTS
Both patients were high hyperopic with partial thickness retinal fold in macula, retinoschisis, and foveal hypoplasia. Axial length was less than 17 mm with scleral thickening in all eyes. OCTA showed absence of foveal avascular zone (FAZ) in both superficial and deep capillary plexuses. Pentacam showed corneal steepness, shallow anterior chamber, and low anterior chamber volume.
CONCLUSION
OCTA findings showed absence of avascular zone in both superficial and deep capillary plexuses, while OCT shows partial thickness retinal fold and retinoschisis.
PubMed: 31528771
DOI: 10.1016/j.joco.2019.01.001