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International Journal of Retina and... 2019Retinoschisis and retinal detachment are distinguished based on features in clinical examination. Even to skilled examiners, some cases may be diagnostic challenges.... (Review)
Review
BACKGROUND
Retinoschisis and retinal detachment are distinguished based on features in clinical examination. Even to skilled examiners, some cases may be diagnostic challenges. Infrared and wide-angle infrared reflectance imaging are relatively new modalities that can provide additional diagnostic information. Non-contact infrared reflectance imaging (also described as near-infrared imaging) highlights sub-retinal features which may otherwise be obscured by standard retinal photography. It is non-invasive and uses the retina's ability to absorb, reflect or scatter infrared light to produce high quality images.
MAIN BODY
The aim of this review is to describe the role of wide-field infrared imaging in screening, diagnosing, and monitoring structural peripheral retinal disorders including retinoschisis, retinal detachment or combined retinoschisis rhegmatogenous detachments. Infrared imaging can also be used to monitor anterior segment inflammation. Heidelberg Wide-Field Module lens and Heidelberg Spectralis HRA + OCT machine (Heidelberg Engineering, Heidelberg, Germany) were used to obtain noncontact, wide-field infrared images on each study eye. Pseudocolor photos were captured by Optos Optomap (Optos, Inc, Massachusetts, USA).
CONCLUSION
Wide angle infrared imaging offers a quick, noncontact, and noninvasive way to help specialists accurately diagnose, monitor for progression, and educate patients about retinal detachment, retinoschisis and even anterior segment inflammation.
PubMed: 31890288
DOI: 10.1186/s40942-019-0188-5 -
Expert Opinion on Drug Metabolism &... Mar 2024Carbonic anhydrases (CAs, EC 4.2.1.1) have been established drug targets for decades, with their inhibitors and activators possessing relevant pharmacological activity... (Review)
Review
INTRODUCTION
Carbonic anhydrases (CAs, EC 4.2.1.1) have been established drug targets for decades, with their inhibitors and activators possessing relevant pharmacological activity and applications in various fields. At least 11 sulfonamides/sulfamates are clinically used as diuretics, antiglaucoma, antiepileptic, or antiobesity agents and one derivative, SLC-0111, is in clinical trials as antitumor/antimetastatic agent. The activators were less investigated with no clinically used agent.
AREAS COVERED
Drug interactions between CA inhibitors/activators and various other agents are reviewed in publications from the period March 2020 - January 2024.
EXPERT OPINION
Drug interactions involving these agents revealed several interesting findings. Acetazolamide plus loop diuretics is highy effective in acute decompensated heart failure, whereas ocular diseases such as X-linked retinoschisis and macular edema were treated by acetazolamide plus bevacizumab or topical NSAIDs. Potent anti-infective effects of acetazolamide and other CAIs, alone or in combination with other agents were demonstrated for the management of , vancomycin resistant enterococci, , and infections. Topiramate, in combination with phentermine is incresingly used for the management of obesity, whereas zonisamide plus levodopa is highly effective for Parkinson's disease. Acetazolamide, methazolamide, ethoxzolamide, and SLC-0111 showed synergistic antitumor/antimetastatic action in combination with many other antitumor drugs.
Topics: Humans; Carbonic Anhydrase Inhibitors; Acetazolamide; Sulfonamides; Drug Interactions; Antineoplastic Agents; Structure-Activity Relationship; Phenylurea Compounds
PubMed: 38450431
DOI: 10.1080/17425255.2024.2328152 -
Survey of Ophthalmology 2023X-linked retinoschisis (XLRS) is an X-linked inherited retinal dystrophy characterized by mild-to-severe visual impairment, splitting of the retinal layers, and a... (Review)
Review
X-linked retinoschisis (XLRS) is an X-linked inherited retinal dystrophy characterized by mild-to-severe visual impairment, splitting of the retinal layers, and a reduction in the dark-adapted b-wave amplitude on the electroretinogram. Typical clinical features include macular and peripheral schisis. Relatively common features reported include rhegmatogenous or tractional retinal detachment, vitreous hemorrhage, retinal pigment epithelial changes, vitreous veils, and various retinal vascular abnormalities with or without exudation. Macular hole and macular folds are atypical presentations of XLRS, along with several other rare findings. Here, we report 4 cases of XLRS with atypical clinical presentations and review the literature on XLRS, with a focus on the variable clinical features of this condition.
Topics: Humans; Retinoschisis; Retinal Detachment; Retina; Electroretinography; Vitreous Hemorrhage; Tomography, Optical Coherence
PubMed: 36724832
DOI: 10.1016/j.survophthal.2023.01.008 -
BMC Ophthalmology Mar 2023To investigate the clinical characteristics of retinal honeycomb appearance in a large cohort of patients with X-linked retinoschisis (XLRS) and to determine whether it...
BACKGROUND
To investigate the clinical characteristics of retinal honeycomb appearance in a large cohort of patients with X-linked retinoschisis (XLRS) and to determine whether it is associated with complications like retinal detachment (RD) and vitreous hemorrhage (VH).
METHODS
A retrospective observational case series. A chart review of medical records, wide-field fundus imaging, and optical coherence tomography (OCT) was performed on 78 patients (153 eyes) diagnosed with XLRS at Beijing Tongren eye center between Dec 2017 and Feb 2022. The chi-square test or Fisher exact test was performed on the 2 × 2 cross-tabulations of honeycomb appearance and other peripheral retinal findings and complications.
RESULTS
Thirty-eight patients (48.7%), and 60 eyes (39.2%) had a honeycomb appearance of different areas on the fundus. The supratemporal quadrant was the most commonly affected (45 eyes, 75.0%), followed by the infratemporal (23 eyes, 38.3%), the infranasal (10 eyes,16.7%), and supranasal (9 eyes,15.0%). The appearance was significantly associated with peripheral retinoschisis, inner retinal layer break, outer retinal layer break, RD, and rhegmatogenous retinal detachment (RRD) (p < 0.01, p = 0.032, p < 0.01, p = 0.008, p < 0.01, respectively). All the eyes complicated with RRD had the appearance. None of the eyes without the appearance had RRD.
CONCLUSIONS
The data suggest that the honeycomb appearance is not uncommon in patients with XLRS and is more likely to be accompanied by an RRD, and inner and outer layer breaks, thus should be treated with caution and close observation.
Topics: Humans; Retinoschisis; Retinal Detachment; Retrospective Studies; Retina; Fundus Oculi; Retinal Perforations
PubMed: 36879218
DOI: 10.1186/s12886-023-02835-2 -
Journal of Comparative Pathology Nov 2023Retinoschisis is a poorly documented form of retinal degeneration characterized by cyst-like splitting that occurs between the inner nuclear and outer plexiform layers....
Retinoschisis is a poorly documented form of retinal degeneration characterized by cyst-like splitting that occurs between the inner nuclear and outer plexiform layers. The pathogenesis of retinoschisis is incompletely understood, but congenital, acquired and secondary aetiologies (glaucoma, inflammation, neoplasia) are described in humans. This retrospective study investigated the prevalence and associated histological and clinical features of retinoschisis in cats and dogs submitted for biopsy over a 10-year period. Of 140 samples with documented 'retinal vacuolation', four out of 120 (3%) canine samples and one out of 20 (5%) feline samples had changes consistent with retinoschisis. In most cases (80%), there was concurrent retinal detachment. In cases with available histories, increased intraocular pressure, proptosis and retinal detachment were reported clinical findings. In cats and dogs, retinoschisis is a retinal change that is generally secondary to other ocular lesions.
Topics: Humans; Cats; Animals; Dogs; Retinoschisis; Retinal Detachment; Retrospective Studies; Retina; Cat Diseases; Dog Diseases
PubMed: 37925755
DOI: 10.1016/j.jcpa.2023.10.001 -
Ophthalmology and Therapy Oct 2023Here we investigate the clinical features of foveal detachment (FD), full-thickness macular hole (MH), and macular hole retinal detachment (MHRD) in myopic traction...
INTRODUCTION
Here we investigate the clinical features of foveal detachment (FD), full-thickness macular hole (MH), and macular hole retinal detachment (MHRD) in myopic traction maculopathy (MTM).
METHODS
In the retrospective observational case series, 314 eyes of 198 patients with myopic retinoschisis in Beijing Tongren Hospital were enrolled. We recorded gender, age, and axial length and evaluated fundus characteristics using optical coherence tomography. Epiretinal membranes (ERMs), vitreoretinal traction, and paravascular abnormalities (PVAs) were used to describe the vitreoretinal interface condition. Different retinoschisis layers (inner, middle, and outer retinoschisis) and the location with a range of outer retinoschisis were evaluated to reveal the retinal condition. Five patterns of the scleral shape: dome-shaped, sloped toward the optic nerve, symmetrical or asymmetrical around the fovea, and irregular were assessed to show retina-sclera condition. We regarded the FD, full-thickness MH, and MHRD as the advanced stage in MTM. Multivariate logistic regression assessed significant factors for the advanced stage with odds ratios (OR) and 95% confidence intervals (CI).
RESULTS
There were 76 eyes with FD, 6 eyes with full-thickness MH, and 7 eyes with MHRD. The mean age was 52.9 ± 12.3 years. On univariate analysis, the eyes with the advanced stage were older and had higher rates of ERMs, PVAs, middle retinoschisis, outer retinoschisis, and irregular sclera shape. The number of retinoschisis layers and the grade of outer retinoschisis were higher in eyes with the advanced stage. After multivariate logistic regression, ERMs (OR 1.983; 95% CI 1.093-3.595; P = 0.024), middle retinoschisis (OR 2.967; 95% CI 1.630-5.401; P < 0.001), and higher grades of outer retinoschisis (OR 2.227; 95% CI 1.711-2.898; P < 0.001) remained associated with the advanced stage.
CONCLUSION
ERMs, middle retinoschisis, and more extensive outer retinoschisis were significant characteristics of the advanced stage in MTM.
PubMed: 37420080
DOI: 10.1007/s40123-023-00745-6 -
Acta Ophthalmologica Mar 2023To investigate the clinical characteristics, internal correlations and risk factors for different locations of retinoschisis (RS) in an elderly high myopia (HM)...
PURPOSE
To investigate the clinical characteristics, internal correlations and risk factors for different locations of retinoschisis (RS) in an elderly high myopia (HM) population.
METHODS
A total of 448 eyes (304 participants) were analysed and classified into no retinoschisis (no-RS), paravascular retinoschisis (PVRS), peripapillary retinoschisis (PPRS) and macular retinoschisis (MRS) groups. Each participant underwent comprehensive ophthalmic examinations, and posterior scleral height (PSH) was measured in swept-source optical coherence tomography images. PSH, vitreoretinal interface abnormities and myopic atrophy maculopathy (MAM) were compared among groups.
RESULTS
Retinoschisis was found in 195 (43.5%) eyes, among which 170 (37.9%) had PVRS, 123 (27.5%) had PPRS, and 103 (23.0%) had MRS. MRS was found to be combined with PVRS in 96 of 103 (93.2%) eyes. MAM was one of the risk factors for RS (odds ratio [OR], 2.459; p = 0.005). Higher nasal PSH was the only risk factor for PVRS (OR, 9.103; p = 0.008 per 1-mm increase). Elongation of axial length (AL) (OR, 1.891; p < 0.001 per 1-mm increase), higher PSH in nasal (OR, 5.059; p = 0.009 per 1-mm increase) and temporal (OR, 13.021; p = 0.012 per 1-mm increase), epiretinal membrane (ERM; OR, 2.841; p = 0.008) and vitreomacular traction (VMT; OR, 7.335; p = 0.002) were risk factors for MRS.
CONCLUSIONS
Paravascular retinoschisis is the most common type of RS in HM and MRS is mostly combined with PVRS. MAM is one of the risk factors for RS. In addition to longer AL and higher PSH, the presence of VMT and ERM also play an important role in the formation of MRS.
Topics: Humans; Aged; Myopia; Retina; Retinoschisis; Epiretinal Membrane; Macular Degeneration; Risk Factors; Tomography, Optical Coherence; Myopia, Degenerative; Retrospective Studies
PubMed: 36004558
DOI: 10.1111/aos.15234 -
Ophthalmology Feb 2022To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).
PURPOSE
To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).
DESIGN
Retrospective cohort study.
PARTICIPANTS
Three hundred forty patients with XLRS from 178 presumably unrelated families.
METHODS
This multicenter, retrospective cohort study reviewed medical records of patients with XLRS for medical history, symptoms, visual acuity (VA), ophthalmoscopy, full-field electroretinography, and retinal imaging (fundus photography, spectral-domain [SD] OCT, fundus autofluorescence).
MAIN OUTCOME MEASURES
Age at onset, age at diagnosis, severity of visual impairment, annual visual decline, and electroretinography and imaging findings.
RESULTS
Three hundred forty patients were included with a mean follow-up time of 13.2 years (range, 0.1-50.1 years). The median ages to reach mild visual impairment and low vision were 12 and 25 years, respectively. Severe visual impairment and blindness were observed predominantly in patients older than 40 years, with a predicted prevalence of 35% and 25%, respectively, at 60 years of age. The VA increased slightly during the first 2 decades of life and subsequently transitioned into an average annual decline of 0.44% (P < 0.001). No significant difference was found in decline of VA between variants that were predicted to be severe and mild (P = 0.239). The integrity of the ellipsoid zone (EZ) as well as the photoreceptor outer segment (PROS) length in the fovea on SD OCT correlated significantly with VA (Spearman's ρ = -0.759 [P < 0.001] and -0.592 [P = 0.012], respectively). Fifty-three different RS1 variants were found. The most common variants were the founder variant c.214G→A (p.(Glu72Lys)) (101 patients [38.7%]) and a deletion of exon 3 (38 patients [14.6%]).
CONCLUSIONS
Large variabilities in phenotype and natural course of XLRS were seen in this study. In most patients, XLRS showed a slow deterioration starting in the second decade of life, suggesting an optimal window of opportunity for treatment within the first 3 decades of life. The integrity of EZ as well as the PROS length on SD OCT may be important in choosing optimal candidates for treatment and as potential structural end points in future therapeutic studies. No clear genotype-phenotype correlation was found.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Blindness; Child; Child, Preschool; Electroretinography; Eye Proteins; Female; Follow-Up Studies; Genetic Association Studies; Humans; Infant; Male; Middle Aged; Ophthalmoscopy; Optical Imaging; Retina; Retinal Photoreceptor Cell Outer Segment; Retinoschisis; Retrospective Studies; Tomography, Optical Coherence; Vision, Low; Visual Acuity
PubMed: 34624300
DOI: 10.1016/j.ophtha.2021.09.021 -
Annals of Eye Science Sep 2020Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology,...
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRD, with the first approved gene therapy and the commencement of multiple therapy trials. The scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in IRD. Herein we present in a comprehensive and concise manner the imaging findings of: (I) macular dystrophies (MD) [Stargardt disease (), X-linked retinoschisis (), Best disease (), pattern dystrophy (), Sorsby fundus dystrophy (), and autosomal dominant drusen ()], (II) cone and cone-rod dystrophies (, , and ) (III) cone dysfunction syndromes [achromatopsia (], blue-cone monochromatism ( array), oligocone trichromacy, bradyopsia () and Bornholm eye disease (), (IV) Leber congenital amaurosis (, , , , , and ) (V) rod-cone dystrophies [retinitis pigmentosa, enhanced S-Cone syndrome (), Bietti crystalline corneoretinal dystrophy ()], (VI) rod dysfunction syndromes (congenital stationary night blindness, fundus albipunctatus () Oguchi disease (, ), and (VII) chorioretinal dystrophies [choroideremia (), gyrate atrophy ()].
PubMed: 33928237
DOI: 10.21037/aes-20-81 -
The British Journal of Ophthalmology May 2024Choroidal neovascularisation (CNV) in patients with X-linked retinoschisis (XLRS) has been poorly documented. This study aims to investigate the prevalence and clinical...
AIMS
Choroidal neovascularisation (CNV) in patients with X-linked retinoschisis (XLRS) has been poorly documented. This study aims to investigate the prevalence and clinical characteristics of CNV in patients with XLRS, as well as analyse the preliminary genotype-phenotype correlation.
METHODS
A retrospective case series of patients with genetically confirmed XLRS was included. Demographic, clinical and genetic features were analysed, with a comparison between CNV and non-CNV eyes.
RESULTS
Among 185 eyes of 129 patients with XLRS, the prevalence of CNV was 8.1% (15/185). The mean diagnostic age of all patients with CNV is 5.1±2.56 years. CNV eyes exhibited a mean best-corrected visual acuity (BCVA) (logarithm of the minimal angle of resolution) of 1.37±0.74. All CNVs were classified as subretinal and active. Peripapillary CNVs accounted for 80.0% (12/15), while subfoveal CNVs accounted for 20.0% (3/15). In CNV eyes, the prevalence of macular atrophy (5/15, 33.3%, p=0.013) and bullous peripheral schisis (14/15, 93.3%, p=0.000) was higher compared with non-CNV eyes. Additionally, CNV eyes exhibited poorer integrity of the outer retina and BCVA (p=0.007) compared with non-CNV eyes. All 15 eyes with CNV underwent anti-vascular endothelial growth factor (anti-VEGF) therapy. Genotype analysis revealed that 7 of 10 patients (70.0%, 10 eyes) were predicted to have missense variants, while 3 of 10 patients (30.0%, 5 eyes) exhibited severe variants.
CONCLUSIONS
The prevalence of CNV in XLRS eyes was found to be 8.1%. All CNVs secondary to XLRS were active and classified as type 2. CNV eyes demonstrated poorer visual function and compromised retinal structures. Anti-VEGF therapy demonstrated effectiveness in treating XLRS-CNVs. No significant genotype-phenotype correlation was established.
PubMed: 38811052
DOI: 10.1136/bjo-2023-324165