-
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 -
Graefe's Archive For Clinical and... Nov 2023To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients.
BACKGROUND
To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients.
METHODS
Treatment-naïve patients with genetically verified XLRS underwent best-correlated visual acuity (BCVA) testing with ETDRS charts, spectral domain optical coherence tomography, and microperimetry (MP) twice a day, at 9 a.m. and 4 p.m., to measure changes in central retinal thickness (CRT), macular volume (MV), average threshold (AT), and fixation stability parameters (P1 and P2).
RESULTS
At baseline, the BCVA of the 14 eyes of 8 patients amounted 0.73 (± 0.23) LogMAR. Between timepoints, the BCVA increased in 3.21 letters (p = .021), the AV improved in 1.84 dB (p = .03, 9.73%), the CRT decreased in 24.43 µm (p = .007, - 4.05%), and the MV dropped in 0.27 µm (p = .016, - 2.68%). P1 and P2 did not variate. The collapse of the MCS led to the reduction of macula thickness. CRT at baseline correlated with the decrease of CRT (Spearman's ρ: - 0.83 [p = .001]). Age and change of BCVA, CRT, and AV did not correlate among one another. Eyes with disrupted ellipsoid zone showed a more prominent change in CRT (p = .050). Photoreceptor outer segment length and integrity of the external limiting membrane and cone outer segment tips were not associated with BCVA, AT, or CRT variation.
CONCLUSION
Eyes of treatment-naïve XLRS patients show diurnal macular thickness and function changes. Eyes with pronounced macular thickness show a greater reduction of the MCS. These results should be taken into consideration in upcoming clinical trials in XLRS.
TRIAL REGISTRATION NUMBER
Institutional Review Board of the Hamburg Medical Chamber (Ethik-Kommission der Ärztekammer Hamburg): 2020-10,328.
PubMed: 37294434
DOI: 10.1007/s00417-023-06106-0 -
Ophthalmology. Retina Sep 2023To review eyes with peripapillary and macular retinoschisis without a visible optic pit or advanced glaucomatous optic atrophy, or No Optic Pit Retinoschisis (NOPIR).
PURPOSE
To review eyes with peripapillary and macular retinoschisis without a visible optic pit or advanced glaucomatous optic atrophy, or No Optic Pit Retinoschisis (NOPIR).
DESIGN
Retrospective multicenter case series.
SUBJECTS
The study included 11 eyes of 11 patients.
METHODS
Retrospective study of eyes with macular retinoschisis without a visible optic pit, advanced optic nerve head cupping, or macular leakage on fluorescein angiography.
MAIN OUTCOME MEASURES
Visual acuity (VA), retinoschisis resolution, months to resolution, and recurrence of retinoschisis RESULTS: The mean age was 68.1 ± 17.6 years, mean intraocular pressure was 17.4 ± 3.8 mmHg, and the mean spherical equivalent refractive error was -3.1 ± 2.9 diopters. No subject had pathologic myopia. Seven subjects were treated for glaucoma, and 9 subjects had nerve fiber layer defects on OCT. All eyes had retinoschisis in the outer nuclear layer (ONL) in the nasal macula and extending to the edge of the optic disc, and 8 subjects had fovea-involving retinoschisis. Three nonfoveal and 4 fovea-involved eyes were observed, and 4 fovea-involved eyes with vision loss underwent surgery. Surgery involved preoperative juxtapapillary laser followed by vitrectomy and membrane and internal limiting membrane peeling with intraocular gas and face-down position. The mean baseline VA was significantly worse in the surgery group than that in the observation group (P = 0.020). Retinoschisis resolved and vision improved in all surgical cases. The mean resolution time for the surgery group was 2.75 ± 0.96 months, which was shorter than that for the observation group (28.0 ± 21.2 months; P = 0.014). No eye developed recurrence of the retinoschisis after surgery.
CONCLUSIONS
Peripapillary and macular retinoschisis can develop in eyes without a visible optic pit or advanced glaucomatous cupping. Eyes without foveal involvement and those with foveal involvement but only mild decrease in vision can be observed for spontaneous resolution. If there is persistent foveal involvement with vision loss, surgery can improve vision by resolving the macular retinoschisis. Surgery for fovea-involved macular retinoschisis without a visible optic pit resulted in faster anatomic resolution and better vision recovery.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Topics: Humans; Retinoschisis; Optic Disk; Macular Degeneration; Glaucoma; Tomography, Optical Coherence; Retrospective Studies; Visual Acuity; Male; Female; Middle Aged; Aged; Aged, 80 and over; Macular Edema; Fluorescein Angiography; Vitrectomy; Treatment Outcome
PubMed: 37271192
DOI: 10.1016/j.oret.2023.05.020 -
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 -
BMC Ophthalmology Apr 2023Circumscribed Choroidal hemangioma (CCH) is a kind of hamartoma that is caused by congenital vascular malformation. And, polypoidal choroidal vasculopathy (PCV) is an...
BACKGROUND
Circumscribed Choroidal hemangioma (CCH) is a kind of hamartoma that is caused by congenital vascular malformation. And, polypoidal choroidal vasculopathy (PCV) is an exudative maculopathy. There is no literature indicating that there is a correlation between the occurrences of CCH and PCV.
CASE PRESENTATION
A 66-year-old male presented with decreased vision of his left eye for 4 years. Fundus photograph showed that the branches of blood vessels at the supratemporal retina were occluded in white lines, an orange lesion could be seen in the subnasal retina and mottled, yellowish white lesions were accompanied by punctate hard exudation in the macular in the left eye. The Fundus autofluorescence (FAF), fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA) and Spectral domain optical coherence tomography (OCT) were done. There was a diagnosis of CCH, PCV and branch retinal vein occlusion accompanied with retinoschisis of the left eye.
CONCLUSION
This article reports on a case of an elderly male Chinese patient with CCH and PCV accompanied by branch retinal vein occlusion with retinoschisis in the left eye. The common lesions are choroidal vascular abnormalities. Whether hypertension is related to CCH, PCV and branch retinal vein occlusion remains to be further studied.
Topics: Humans; Male; Aged; Retinal Vein Occlusion; Polypoidal Choroidal Vasculopathy; Retinoschisis; Choroid Neoplasms; Choroid; Fluorescein Angiography; Hemangioma; Tomography, Optical Coherence; Polyps; Choroidal Neovascularization; Indocyanine Green; Retrospective Studies
PubMed: 37101127
DOI: 10.1186/s12886-023-02880-x -
BMC Ophthalmology Apr 2023X-linked retinoschisis (XLRS), due to mutations in the RS1 gene, is a common genetically determined form of macular degeneration. This report describes an unusual case...
BACKGROUND
X-linked retinoschisis (XLRS), due to mutations in the RS1 gene, is a common genetically determined form of macular degeneration. This report describes an unusual case of angle-closure glaucoma (ACG) with XLRS and discusses the treatment.
CASE PRESENTATION
A 39-year-old Chinese man with an X chromosome-recessive inherited c.489G > A variant in the RS1 gene was diagnosed as XLRS and ACG, presenting with cystic macular lesions, shallow anterior chamber depth (ACD), and angle-closure with uncontrolled intraocular pressure (IOP). Malignant glaucoma occurred following trabeculectomy combining phacoemulsification with intraocular lens (IOL) implantation and goniosynechialysis. Subsequent anterior vitrectomy and irido-zonulo-hyaloid-vitrectomy (IZHV) effectively lowered IOP and deepened ACD, but the cystic cavity became larger.
CONCLUSIONS
There is a potential risk of malignant glaucoma in ACG patients with XLRS after filtering surgery. Although anterior vitrectomy can effectively resolve aqueous misdirection, the macular retinoschisis may get worse. Awareness of this risk may aid in surgical planning and postoperative management in these patients.
Topics: Male; Humans; Adult; Glaucoma, Angle-Closure; Retinoschisis; Lens Implantation, Intraocular; Glaucoma; Cataract Extraction; Intraocular Pressure; Phacoemulsification
PubMed: 37069516
DOI: 10.1186/s12886-023-02903-7 -
BMC Ophthalmology Apr 2023Peripapillary retinoschisis (PPRS) is often associated with glaucomatous eyes. It usually occurs in eyes with a more advanced stage of glaucoma with obvious optic nerve...
BACKGROUND
Peripapillary retinoschisis (PPRS) is often associated with glaucomatous eyes. It usually occurs in eyes with a more advanced stage of glaucoma with obvious optic nerve damage. We report a patient who was found to have PPRS in one eye during a routine physical examination without obvious glaucoma symptoms. Further examination revealed glaucomatous visual field loss and retinal nerve fiber layer defects in the contralateral eye.
CASE PRESENTATION
A 55-year-old man presented for a routine physical examination. The anterior segment was normal in both eyes. Fundus examination revealed an elevated and red optic disc in the right eye. In addition, scattered patchy red lesions were seen on the retina on the temporal side of the optic disc. The color and boundary of the left optic disc were normal, and the cup-to-disc ratio was 0.6. Optical coherence tomography showed retinoschisis on the optic nerve head of the right eye throughout the entire circumference, extending to the retina on the temporal side of the optic disc. The intraocular pressure was 18 mmHg OD and 19 mmHg OS. The patient was diagnosed with PPRS (OD). However, no optic disc pit or optic disc coloboma was found. Further examination showed that the visual field of the patient's right eye was generally normal, while a glaucomatous visual field defect was found in the left eye, which manifested as a nasal step visual field defect. Moreover, stereophotography and a red-free fundus image revealed two retinal nerve fiber layer defects in the supratemporal and infratemporal regions of the retina of the left eye. Continuous intraocular pressure measurement found that the intraocular pressure fluctuated between 18 and 22 mmHg OD and 19-26 mmHg OS during the daytime. Primary open-angle glaucoma was then diagnosed.
CONCLUSIONS
In this case, we found that PPRS was associated with glaucomatous optic nerve changes and visual field defects in the fellow eye.
Topics: Male; Humans; Middle Aged; Retinoschisis; Glaucoma, Open-Angle; Glaucoma; Optic Disk; Intraocular Pressure; Optic Nerve Injuries; Retinal Diseases; Tomography, Optical Coherence; Vision Disorders; Optic Nerve
PubMed: 37013512
DOI: 10.1186/s12886-023-02887-4 -
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 -
Ophthalmology and Therapy Jun 2023To investigate changes in the vitreoretinal interface after anti-vascular endothelial growth factor (anti-VEGF) treatment in highly myopic eyes.
INTRODUCTION
To investigate changes in the vitreoretinal interface after anti-vascular endothelial growth factor (anti-VEGF) treatment in highly myopic eyes.
METHODS
Eyes with myopic choroidal neovascularization (mCNV) treated with intravitreal injection of anti-VEGF in a single-center were retrospectively reviewed. Fundus abnormalities and features of optical computed tomography were studied.
RESULTS
A total of 295 eyes from 254 patients were recruited to the study. Prevalence of myopic macular retinoschisis (MRS) was 25.4%, and the rates of progression and onset of MRS were 75.9% and 16.2%, respectively. Outer retinal schisis (β = 8.586, p = 0.003) and lamellar macular hole (LMH) (β = 5.015, p = 0.043) at baseline were identified risk factors for progression and onset of MRS, whereas male sex (β = 9.000, p = 0.039) and outer retinal schisis at baseline (β = 5.250, p = 0.010) were risk factors for MRS progression. Progression of MRS was first detected in outer retinal layers in 48.3% of eyes. Thirteen eyes required surgical intervention. Spontaneous improvements of MRS were observed in five eyes (6.3%).
CONCLUSION
Changes in the vitreoretinal interface, such as progression, onset, and improvement of MRS, were observed after anti-VEGF treatment. Outer retinal schisis and LMH were risk factors of progression and onset of MRS after anti-VEGF treatment. Intravitreal injection of ranibizumab and retinal hemorrhage were protective factors for surgical intervention for vision-threatening MRS.
PubMed: 37004698
DOI: 10.1007/s40123-023-00701-4 -
Genes Feb 2023Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically heterogeneous disease that is characterized by vascular disorder. FEVR exhibits... (Review)
Review
Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically heterogeneous disease that is characterized by vascular disorder. FEVR exhibits strikingly variable clinical phenotypes, ranging from asymptomatic to total blindness. In this case, we present a patient who was first treated as having high myopia and retinopathy but was finally diagnosed with FEVR caused by the heterozygous deletion of exon 7 in with the aid of whole genome sequencing (WGS). Typical vascular changes, including vascular leakage and an avascular zone in the peripheral retina, were observed in the proband using fundus fluorescein angiography (FFA), and the macular dragging was shown to be progressing in the follow-up visit. Furthermore, the proband showed unreported -related phenotypes of FEVR: ERG (full-field electroretinogram) abnormalities and retinoschisis. Only mild vascular changes were exhibited in the FFA for the other three family members who carried the same deletion of exon 7 in . This case expands our understanding of the phenotype resulting from mutations and signifies the importance of combining both clinical and molecular analysis approaches to establish a complete diagnosis.
Topics: Humans; DNA Mutational Analysis; Exons; Familial Exudative Vitreoretinopathies; Pedigree; Tetraspanins
PubMed: 36980859
DOI: 10.3390/genes14030587