Evaluation of the R:GEN Laser System as an Intervention in Subjects With Early Stages of Age Related Macular Degeneration (AMD) for Safety and Exploratory Efficacy Outcomes

The purpose of this study is to assess the safety and tolerability of the R:GEN Laser System in subjects with the early stages of age-related macular degeneration.

开始日期2021-02-15

申办/合作机构-

ChiCTR2000039877 / Recruiting早期临床1期IIT

Study on the characteristics of intestinal microecological community and its correlation with syndromes in patients with early age-related macular degeneration (AMD)

开始日期2020-12-01

申办/合作机构-

100 项与早发性老年性黄斑变性相关的临床结果

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100 项与早发性老年性黄斑变性相关的转化医学

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0 项与早发性老年性黄斑变性相关的专利（医药）

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259

项与早发性老年性黄斑变性相关的文献（医药）

2024-10-01·Graefe's Archive for Clinical and Experimental Ophthalmology

Extensive macular atrophy with pseudodrusen-like appearance: comprehensive review of the literature

Review

作者: Giannuzzi, Federico ; Crincoli, Emanuele ; Boselli, Francesco ; Rizzo, Stanislao ; Carlà, Matteo Mario

AbstractPurposeThis review focuses on extensive macular atrophy with pseudodrusen-like appearance (EMAP), a recently described maculopathy presenting with pseudodrusen-like lesions and chorioretinal atrophy more pronounced in the vertical axis.MethodsNarrative review of the literature published until May 2024.ResultsThe early onset age of EMAP (50–55 years) and its distinctive natural history, which includes night blindness followed by severe vision loss, differentiate it from atrophic age-related macular degeneration (AMD). A clear pathogenesis has not been determined, but risk factors include female gender and complement system abnormalities (altered levels of C3 and CH50). Moreover, lifelong exposure to pesticides has been suggested as risk factor for direct neuronal degeneration involving rods and cones. In the early phase of the disease, reticular pseudodrusen-like lesions appear in the superior perifovea and tend to coalescence horizontally into a flat, continuous, reflective material localized between the retinal pigmented epithelium and Bruch’s membrane. Over time, EMAP causes profound RPE and outer retinal atrophy in the macular area, with a recent classification reporting a 3-stages evolution pattern. Blue autofluorescence showed rapidly evolving atrophy with either hyperautofluorescent or isoautofluorescent borders. Significant similarities between the diffuse-trickling phenotype of geographic atrophy and EMAP have been reported. Macular neovascularization is a possible complication.ConclusionEMAP is specific form of early-onset atrophic macular degeneration with rapid evolution and no treatment. Further studies are needed to assess the best management.

2024-09-01·The FASEB Journal

Promotion of endoplasmic reticulum retrotranslocation by overexpression of E3 ubiquitin‐protein ligase synoviolin 1 reduces endoplasmic reticulum stress and preserves cone photoreceptors in cyclic nucleotide‐gated channel deficiency

Article

作者: Boye, Shannon E. ; Yang, Fan ; Ma, Hongwei ; Boye, Sanford L. ; Ding, Xi‐Qin

AbstractCone photoreceptor cyclic nucleotide‐gated (CNG) channels play an essential role in phototransduction and cellular Ca2+ homeostasis. Mutations in genes encoding the channel subunits CNGA3 and CNGB3 are associated with achromatopsia, progressive cone dystrophy, and early‐onset macular degeneration. Cone loss in patients with achromatopsia and cone dystrophy associated with CNG channel mutations has been documented by optical coherence tomography and in mouse models of CNG channel deficiency. Cone death in CNG channel‐deficient retinas involves endoplasmic reticulum (ER) stress‐associated apoptosis, dysregulation of cellular/ER Ca2+ homeostasis, impaired protein folding/processing, and impaired ER‐associated degradation (ERAD). The E3 ubiquitin‐protein ligase synoviolin 1 (SYVN1) is the primary component of the SYVN1/SEL1L ER retrotranslocon responsible for ERAD. Previous studies have shown that manipulations that protect cones and reduce ER stress/cone death in CNG channel deficiency, such as increasing ER Ca2+ preservation or treatment with an ER chaperone, increase the expression of SYVN1 and other components of the ER retrotranslocon. The present work investigated the effects of SYVN1 overexpression. Intraocular injection of AAV5‐IRBP/GNAT2‐Syvn1 resulted in overexpression of SYVN1 in cones of CNG channel‐deficient mice. Following treatment, cone density in Cnga3−/− mice was significantly increased, compared with untreated controls, outer segment localization of cone opsin was improved, and ER stress/apoptotic cell death was reduced. Overexpression of SYVN1 also led to increased expression levels of the retrotranslocon components, degradation in ER protein 1 (DERL1), ERAD E3 ligase adaptor subunit (SEL1L), and homocysteine inducible ER protein with ubiquitin‐like domain 1 (HERPUD1). Moreover, overexpression of SYVN1 likely enhanced protein ubiquitination/proteasome degradation in CNG channel‐deficient retinas. This study demonstrates the role of SYVN1/ERAD in cone preservation in CNG channel deficiency and supports the strategy of promoting ERAD for cone protection.

2024-04-01·Experimental Eye Research

Causal associations of refractive error and early age-related macular degeneration: A Mendelian randomization study

Article

作者: Chen, Sixi ; Zhao, YongJi ; Wu, Dongjing ; Tu, Mengjun ; Wei, Wenlong ; Wang, Lingling

This study aims to determine the risk associated with early age-related macular degeneration (AMD) due to refractive errors (RE) using an analysis of genome-wide association study (GWAS) data through the two-sample Mendelian randomization approach. Single-nucleotide polymorphisms (SNPs) linked to refractive errors (RE) were obtained from numerous GWAS studies involving individuals of European descent. The data for early AMD was obtained from a diverse, multiethnic GWAS meta-analysis that included 105,248 participants (14,034 cases and 91,214 controls). The primary outcome measure focused on the rise in early AMD risk corresponding to a 1-diopter alteration in spherical power and cylindrical power. In the main Mendelian randomization analysis, inverse-variance weighting (IVW) methods were applied for the evaluation. Mendelian Randomization (MR) study revealed a substantial impact of refractive error (RE) on early AMD risk, with a 1-diopter increase in hypermetropia being related to a 1.16 odds ratio (OR) for a greater risk of early AMD (95% CI, 1.10-1.23; P < 0.01). This conclusion was further supported by four supplementary approaches, namely, Weighted mode, Weighted-median, Simple mode, and MR-Egger. The results suggest a heightened risk of early AMD correlated with hyperopia, necessitating further research to thoroughly elucidate this potential causal relationship.

项与早发性老年性黄斑变性相关的新闻（医药）

2023-05-24

·NS Medical Devices

iHealthScreen seeks FDA 510K clearance for iPredict AMD screening tool

iPredict AI Eye Screening System is an automated software as a medical device that offers AMD screening, including retinal imaging and rapid reporting of actionable results iPredict can efficiently and accurately screen AMD in people over 50 years of age. (Credit: Marc Schulte on Unsplash) Eye care solutions provider iHealthScreen has announced the US Food and Drug Administration (FDA) submission for artificial intelligence (AI)-based iPredict system, designed for early diagnosis of age-related macular degeneration (AMD). iPredict AI Eye Screening System is an automated software as a medical device. It offers AMD screening, including retinal imaging and rapid reporting of actionable results. According to iHealthScreen, primary care and various speciality practices can use the system to screen AMD efficiently and accurately in people over 50 years of age and refer them to an ophthalmologist. The iPredict AI System screens the high-resolution photographs of the patient’s eyes once they have been uploaded. It then provides the findings of the screening in a fully automated report in less than 60 seconds. Designed for use in clinics, hospitals, or other healthcare facilities, the iPredict automated report may also suggest a follow-up visit in one year as per the standards of care. The eye care solutions provider said that the entire process can be completed in five minutes. iHealthScreen conducted a prospective trial in the general population to evaluate the product’s accuracy, sensitivity, and specificity. In the study, the iPredict-AMD device showed a sensitivity of 86.86% and a specificity of 94.13%. iHealthScreen founder and CEO Alauddin Bhuiyan said: “This is a major milestone for iHealthScreen. iPredict eye disease diagnostic tools can help prevent blindness for millions of people and save insurers countless millions of dollars in avoidable healthcare cost.” In the FDA 510(k) application, the company proposed that iPredict-AMD is indicated for use by healthcare providers to automatically detect early age-related macular degeneration (mteAMD) in adults above 50 years of age who have not been previously diagnosed with Late AMD. Additionally, it is indicated for use with the DRSPlus colour fundus camera in both primary care and eye care settings, the eye care solutions provider said.