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BMC Ophthalmology Apr 2024The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels. (Meta-Analysis)
Meta-Analysis
PURPOSE
The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels.
APPROACH
We screened various variables such as the CRB1 mutation types, domains, exons, and genotypes and their relation with specific ocular phenotypes. An emphasis was given to the bi-allelic missense and nonsense mutations because of their high prevalence compared to other mutation types. Finally, we quantified the effect of various non-modifiable factors over the best-corrected visual acuity oculus uterque (BCVA OU) using multivariate linear regression models and identified genetic interactions.
RESULTS
A novel bi-allelic missense in the exon 9 of CRB1; c.2936G > A; p.(Gly979Asp) was found to be associated with rod-cone dystrophy (RCD). CRB1 mutation type, exons, domains, and genotype distribution varied significantly according to fundus characteristics, such as peripheral pigmentation and condition, optic disc, vessels, macular condition, and pigmentation (P < 0.05). Of the 154 articles retrieved from PubMed, 96 studies with 439 bi-allelic CRB1 patients were included. Missense mutations were significantly associated with an absence of macular pigments, pale optic disc, and periphery pigmentation, resulting in a higher risk of RCD (P < 0.05). In contrast, homozygous nonsense mutations were associated with macular pigments, periphery pigments, and a high risk of LCA (P < 0.05) and increased BCVA OU levels. We found that age, mutation types, and inherited retinal diseases were critical determinants of BCVA OU as they significantly increased it by 33% 26%, and 38%, respectively (P < 0.05). Loss of function alleles additively increased the risk of LCA, with nonsense having a more profound effect than indels. Finally, our analysis showed that p.(Cys948Tyr) and p.(Lys801Ter) and p.(Lys801Ter); p.(Cys896Ter) might interact to modify BCVA OU levels.
CONCLUSION
This meta-analysis updated the literature and identified genotype-phenotype associations in bi-allelic CRB1 patients.
Topics: Humans; Alleles; Codon, Nonsense; Nerve Tissue Proteins; Genetic Association Studies; Retina; Phenotype; Mutation; Eye Proteins; Pedigree; DNA Mutational Analysis; Membrane Proteins
PubMed: 38622537
DOI: 10.1186/s12886-024-03419-4 -
Journal of Clinical Medicine Jan 2024: Subretinal macular hemorrhage (SRMH) secondary to age-related macular degeneration (AMD) is a relatively rare condition in ophthalmology characterized by blood... (Review)
Review
: Subretinal macular hemorrhage (SRMH) secondary to age-related macular degeneration (AMD) is a relatively rare condition in ophthalmology characterized by blood collection between the neurosensory retina and the retinal pigment epithelium (RPE). Without prompt treatment, visual prognosis is poor. A plethora of treatment approaches have been tried over the past years ranging from intravitreal anti-vascular endothelial growth factor (anti-VEGF) monotherapy to direct subretinal surgery, with no conclusive superiority of one over the other. : We conducted a systematic review of the outcomes and treatment modalities of SRMH from inception to 14 June 2022, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PRISMA). The level of evidence was assessed for all included articles according to the quality of evidence according to the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. : A total of 2745 articles were initially extracted, out of which 1654 articles were obtained after duplicates were removed and their abstracts screened. A total of 155 articles were included for full-text review. Finally, 81 articles remained that fulfilled the inclusion criteria. : Even though there are solid results supporting a variety of treatments for SRMH, the best treatment modality has still not been conclusively demonstrated and further research is needed.
PubMed: 38256501
DOI: 10.3390/jcm13020367 -
Vestnik Oftalmologii 2023Diabetic retinopathy (DR) is a microvascular complication of diabetes mellitus (DM) and considered one of the leading causes of vision loss worldwide. The choroid...
Diabetic retinopathy (DR) is a microvascular complication of diabetes mellitus (DM) and considered one of the leading causes of vision loss worldwide. The choroid supplies blood to the retina, photoreceptors and the retinal pigment epithelium, it is essential for metabolic exchange in the retina. Many experimental studies have reported that choroidal pathology in diabetic patients may play a role in the development of DR. Choroidal thickness (CT) can be used to assess the vascularization of the choroid. Choroidal vascularity index (CVI) is also used as a marker in assessment of choroidal vascularization. Many studies have been conducted to evaluate choroidal changes in various eye diseases. However, the data on CT in DM patients, especially in those with DR, are conflicting. Thus, the choroidal status in diabetic patients with or without DR remains controversial. In this systematic review we analyze a number of articles dedicated to the relationship between structural changes in the choroid in patients with diabetes mellitus and diabetic retinopathy of different stages, paying particular attention to choroidal thickness and certain other parameters that allow assessment of choroidal changes.
Topics: Humans; Diabetic Retinopathy; Diabetes Mellitus, Type 2; Tomography, Optical Coherence; Choroid; Choroidal Neovascularization
PubMed: 38235643
DOI: 10.17116/oftalma2023139061158 -
Ophthalmology. Retina Jun 2024To evaluate which OCT prognostic biomarkers best predict the risk of progression from early/intermediate to late age-related macular degeneration (AMD). (Meta-Analysis)
Meta-Analysis Review
TOPIC
To evaluate which OCT prognostic biomarkers best predict the risk of progression from early/intermediate to late age-related macular degeneration (AMD).
CLINICAL RELEVANCE
Among > 100 OCT prognostic biomarkers for AMD, it is unclear which are the most relevant for clinicians and researchers to focus on. This review evaluated which OCT biomarkers confer the greatest magnitude of prediction for progression to late AMD.
METHODS
Study protocol was registered on PROSPERO (CRD42023400166). PubMed and Embase were searched from inception to March 2, 2023, and eligible studies assessed following the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) approach. The primary outcome was any quantified risk of progression from treatment-naive early/intermediate AMD to late AMD, including hazard ratios (HRs), odds ratios (ORs), and standardized mean differences (at baseline, between eyes with versus without progression), subgrouped by each OCT biomarker. Further meta-analyses were subgrouped by progression to geographic atrophy or neovascularization.
RESULTS
A total of 114 quantified OCT prognostic biomarkers were identified. With high GRADE certainty of evidence, the greatest magnitudes of prediction to late AMD belonged to: external limiting membrane abnormality (OR, 15.42 [7.63, 31.17]), ellipsoid zone abnormality (OR, 10.8 [4.58, 25.46]), interdigitation zone abnormality (OR, 7.68 [2.57, 23]), concurrent large drusen and reticular pseudodrusen (HR, 6.73 [1.35, 33.65], hyporeflective drusen cores (HR, 2.48 [1.8, 3.4]; OR 1.85 [1.29, 2.66]), intraretinal hyperreflective foci (IHRF; HR, 2.16 [0.92, 5.07]; OR 5.08 [3.26, 7.92]), and large drusen (HR, 2.01 [1.35, 2.99]); OR, 1.98 [1.27, 3.08]). There was greater risk of geographic atrophy for IHRF and hyporeflective drusen cores (P < 0.05), and neovascularization for ellipsoid zone abnormality (P < 0.05). Other OCT biomarkers such as drusenoid pigment epithelium detachment, shallow irregular retinal pigment epithelium elevations, and nascent geographic atrophy exhibited large magnitudes of risk but required further studies for validation.
CONCLUSION
This review synthesizes the 6 most relevant OCT prognostic biomarkers for AMD with greater predictive ability than large drusen alone, for clinicians and researchers to focus on. Further study is required to validate other biomarkers with less than high certainty of evidence, and assess how the copresence of biomarkers may affect risks.
FINANCIAL DISCLOSURE(S)
The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Topics: Humans; Disease Progression; Prognosis; Tomography, Optical Coherence; Biomarkers; Macular Degeneration
PubMed: 38154619
DOI: 10.1016/j.oret.2023.12.006 -
Is It Possible for Light-Based Hair Removal Home Devices to Induce Ocular Damage? Systematic Review.Clinical, Cosmetic and Investigational... 2023Light-based hair removal home devices emit intense pulse light (IPL) or Diode laser. While the Food and Drug Administration controls them in the US, Europe continues to... (Review)
Review
Light-based hair removal home devices emit intense pulse light (IPL) or Diode laser. While the Food and Drug Administration controls them in the US, Europe continues to classify them as cosmetic products. Emerging concerns are: what if an unprotected eye is inadvertently exposed to light emission? Or if the consumer tries to overcome the protective safety features? We performed this systematic review by searching the Medline, CENTRAL, and Google Scholar databases to investigate the ocular damage reported after exposure to IPL for hair removal. We could not identify any case reported following exposure to home devices; however, a total of 20 patients were identified with iris atrophy, anterior chamber inflammation, and/or retinal pigment epithelium damage following exposure to office IPL or Diode lights. 40% were not using any protective eyewear during the light procedure. The reported fluences were in the range of 20-24 J/cm. Although the ocular damage was identified following office devices, the reported fluences were within the home device's limits. For that, manufacturers should provide clear instructions on the package regarding the ocular hazards, the importance of using protective goggles, and a firm warning not to overcome the contact sensors. Home device-induced ocular damage is still a concern, perhaps under-reported.
PubMed: 38152153
DOI: 10.2147/CCID.S442963 -
Current Journal of Neurology Jan 2023This study was conducted to evaluate the relationship between retinal layer thickness (RLT) and cognition in patients with multiple sclerosis (MS). We searched PubMed,... (Review)
Review
This study was conducted to evaluate the relationship between retinal layer thickness (RLT) and cognition in patients with multiple sclerosis (MS). We searched PubMed, Scopus, Embase, Web of Science, and Google Scholar. The search strategy included the MeSH and text words as ["ora serrata" OR "retina" OR ("coherence tomography" AND "optical") OR "OCT tomography" OR (tomography AND OCT) OR "optical coherence tomography" OR "OCT" OR "retinal thickness" OR "inner plexiform layer" OR "nerve fiber layer" OR "ganglion cell layer" OR "inner nuclear layer" OR "outer plexiform layer" OR "outer nuclear layer" OR "external limiting membrane" OR "inner segment layer" OR "outer segment layer" OR "retinal pigment epithelium"] AND ["cognition"* OR "cognitive function"* OR (function* AND cognitive)] AND [(sclerosis AND multiple) OR (sclerosis AND disseminated) OR "disseminated sclerosis" OR "multiple sclerosis" OR "acute fulminating"]. The literature search revealed 1090 articles; after deleting duplicates, 980 remained. Finally, 14 studies were included. Totally, 1081 patients were evaluated. Mean age ranged from 31 to 55 years. In some studies, there was a correlation between cognition and retinal thickness, while others did not confirm this finding. Some authors found cognitive impairment (CI) in patients with MS with RLT. The results of this systematic review show that there are discrepancies between the results of studies regarding the relationship between RLT and cognition status in patients with MS. Further studies with more included original studies and meta-analysis are recommended.
PubMed: 38011353
DOI: 10.18502/cjn.v22i1.12617 -
BMC Ophthalmology Nov 2023To evaluate the efficacy of anti-vascular endothelial growth factor (VEGF) in treatment of age-related macular degeneration (AMD) with retinal pigment epithelial... (Meta-Analysis)
Meta-Analysis
Comparative efficacy of aflibercept and ranibizumab in the treatment of age-related macular degeneration with retinal pigment epithelial detachment: a systematic review and network meta-analysis.
OBJECTIVES
To evaluate the efficacy of anti-vascular endothelial growth factor (VEGF) in treatment of age-related macular degeneration (AMD) with retinal pigment epithelial detachment (PED).
METHODS
Systematic review identifying studies comparing intravitreal ranibizumab (IVR), intravitreal aflibercept (IVA) and intravitreal conbercept (IVC) published before Mar 2022.
RESULTS
One randomized controlled trial and 6 observational studies were selected for meta-analysis (1,069 patients). The change of best corrected visual acuity (BCVA) in IVA 2.0 mg group was better than IVR 0.5 mg (average difference 0.07) and IVR 2.0 mg (average difference 0.10), the differences were statistically significant. The change of the height of PED in IVA 2.0 group was better than IVR 0.5 group (average difference 45.30), the difference was statistically significant. The proportion of patients without PED at last visit in IVA 2.0 group were better than those in IVR 2.0 group (hazard ratio 1.91), the difference was statistically significant. There was no significant difference compared with IVR 0.5 group (hazard ratio 1.45). IVA required fewer injections than IVR, with a mean difference of -1.58.
CONCLUSIONS
IVA appears to be superior to IVR in improvement of BCVA, height decrease of PED and regression of PED with less injections in nAMD with PED.
Topics: Humans; Ranibizumab; Angiogenesis Inhibitors; Retinal Detachment; Network Meta-Analysis; Vascular Endothelial Growth Factor A; Retinal Pigment Epithelium; Retrospective Studies; Receptors, Vascular Endothelial Growth Factor; Recombinant Fusion Proteins; Intravitreal Injections; Macular Degeneration
PubMed: 37990182
DOI: 10.1186/s12886-023-03214-7 -
Retina (Philadelphia, Pa.) Feb 2024To identify the prevalence of retinal pigment epithelium tear (RPET) after anti-vascular endothelial growth factor (VEGF) therapy and determine the efficacy of continued... (Meta-Analysis)
Meta-Analysis
PURPOSE
To identify the prevalence of retinal pigment epithelium tear (RPET) after anti-vascular endothelial growth factor (VEGF) therapy and determine the efficacy of continued anti-VEGF therapy in patients with RPET.
METHODS
All relevant clinical trials and observational studies in several online databases were screened. The main outcomes were the incidence of RPET after anti-VEGF therapy and changes in visual acuity for patients with RPET treated with continued anti-VEGF.
RESULTS
The pooled incidence of RPET after anti-VEGF therapy from 24 studies with 17,354 patients was 1.9% (95% CI: 1.3-2.7). Most new RPET cases were concentrated in the first month at baseline or after the first injection during anti-VEGF therapy and gradually decreased by the subsequent month or injection. 13 studies with 157 patients reported that for patients who received anti-VEGF therapy after RPET, their pooled best-corrected visual acuity improved, but did not reach a significant level (standardized mean differences 0.34; 95% CI: -0.03 to 0.71).
CONCLUSION
The incidence of RPET after anti-VEGF therapy is low. The intravitreal anti-VEGF injection may accelerate this process. For patients with RPET, maintenance of anti-VEGF therapy ensures visual acuity stability.
Topics: Humans; Ranibizumab; Angiogenesis Inhibitors; Bevacizumab; Vascular Endothelial Growth Factor A; Endothelial Growth Factors; Antibodies, Monoclonal, Humanized; Retinal Pigment Epithelium; Intravitreal Injections
PubMed: 37824816
DOI: 10.1097/IAE.0000000000003922 -
BMJ Open Ophthalmology Oct 2023The rising prevalence of myopia is a concern in ophthalmology, with myopic choroidal neovascularisation (m-CNV) significantly affecting vision. However, long-term...
INTRODUCTION
The rising prevalence of myopia is a concern in ophthalmology, with myopic choroidal neovascularisation (m-CNV) significantly affecting vision. However, long-term outcomes of m-CNV management have been unsatisfactory, leading to high recurrence rates. These studies aim to identify risk factors for m-CNV recurrence.
METHODS
Comprehensive review followed a pre-registered plan in the International Prospective Register of Systematic Reviews (PROSPERO). The search strategy used various databases including PubMed, Cochrane Library, Embase, Scopus and ScienceDirect using the keywords 'Myopic Choroidal Neovascularization', 'Recurrence' and 'Risk'. Eligible studies were identified and analysed based on predetermined criteria. This study was registered on PROSPERO (CRD4202343461).
RESULTS
The systematic review included three retrospective studies investigating risk factors associated with m-CNV recurrence. These factors are: (1) requiring three or more injections for initial disease control, (2) older age, (3) larger myopic macular neovascularisation, (4) juxtafoveal CNV, (5) larger height of hyper-reflective foci (HRF) and (6) destruction or absence of the ellipsoid zone (EZ) and retinal pigment epithelium (RPE).
CONCLUSION
Risk factors for m-CNV recurrence include a greater number of required injections, older age, large macular CNV, juxtafoveal location, increased HRF height and changes in EZ and RPE structure. Understanding these factors can inform personalised treatment approaches and improve patient outcomes by identifying individuals at higher risk of recurrence and implementing proactive measures to mitigate the impact of m-CNV recurrence and progression. Further investigation is needed to enhance our understanding of the underlying mechanisms and develop innovative therapeutic approaches for effective m-CNV management.
PROSPERO REGISTRATION NUMBER
CRD4202343461.
Topics: Humans; Choroidal Neovascularization; Myopia, Degenerative; Retrospective Studies
PubMed: 37816549
DOI: 10.1136/bmjophth-2023-001396 -
Biomedicine & Pharmacotherapy =... Nov 2023Humans rely on vision as their most important sense. This is accomplished by photoreceptors (PRs) in the retina that detect light but cannot function without the support... (Review)
Review
Humans rely on vision as their most important sense. This is accomplished by photoreceptors (PRs) in the retina that detect light but cannot function without the support and maintenance of the retinal pigment epithelium (RPE). In subretinal hemorrhage (SRH), blood accumulates between the neurosensory retina and the RPE or between the RPE and the choroid. Blood breakdown products subsequently damage PRs and the RPE and lead to poor vision and blindness. Hence, there is a high need for options to preserve the retina and visual functions. We conducted a systematic review of the literature in accordance with the PRISMA guidelines to identify the cell death mechanisms in RPE and PRs after SRH to deepen our understanding of the pathways involved. After screening 736 publications published until November 8, 2022, we identified 19 records that assessed cell death in PRs and/or RPE in experimental models of SRH. Among the different cell death mechanisms, apoptosis was the most widely investigated mechanism (11 records), followed by ferroptosis (4), whereas necroptosis, pyroptosis, and lysosome-dependent cell death were only assessed in one study each. We discuss different therapeutic options that were assessed in these studies, including the removal of the hematoma/iron chelation, cytoprotection, anti-inflammatory agents, and antioxidants. Further systematic investigations will be necessary to determine the exact cell death mechanisms after SRH with respect to different blood breakdown components, cell types, and time courses. This will form the basis for the development of novel treatment options for SRH.
Topics: Humans; Retinal Pigment Epithelium; Retina; Cell Death; Photoreceptor Cells; Hemorrhage
PubMed: 37742603
DOI: 10.1016/j.biopha.2023.115572