Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “macular degeneration”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1979

Foveal cone electroretinograms in strabismic amblyopia: comparison with juvenile macular degeneration, macular scars, and optic atrophy.

A hand-held stimulator-ophthalmoscope was used to elicit foveal cone electroretinograms (ERGs) from fifteen patients with strabismic amblyopia. The ERGs were in response to a 4 degrees stimulus visualized on the fundus and centred on the fovea throughout testing. Foveal cone ERGs from amblyopic eyes were normal in amplitude and normal in b-wave implicit time. Interocular differences in ERGs in patients with amblyopia were no greater than those in normal subjects. Patients with comparable visual acuity loss due to macular scars or juvenile hereditary macular degeneration had abnormal foveal cone ERGs, while patients with optic atrophy had normal responses. These findings support the idea that the defect in strabismic amblyopia does not involve a functional abnormality in the fovea distal to the ganglion cell layer.

Adolescent↗
PubMed1977

[Vitelline macular degeneration and Best's macular degeneration are the same disease (author's transl)].

In 1905 F. Best had discovered infantile macular degeneration with dominant transmission, later named after him. From Best's pedigree 19 members could be examined by us. Besides the usual examination-methods, EOG, ERG, Fluorescein-Angiography and Chromato-Ophthalmoscopy were applied. In this way the characteristic findings of vitelline macular degeneration could be demonstrated. 7 family-members were typically affected according to their ages. 2 of them were found to be carriers with normal macula; they had however a pathological EOG. The question, if the diagnosis of Best's macular degeneration should be used further in the system of the hereditary macular degenerations or whether it is indeed the same disease as vitelline macular degeneration, is discussed. Best's macular degeneration and vitelline macular degeneration are synonymous. We recommend, that the term vitelline macular degeneration ought to be used intead of Best's macular degeneration. It remains F. Best's merit, that this disease has been recognised and des

Adolescent↗
PubMed1978

EOG in a large family with hereditary macular degeneration. (Best's vitelliform macular dystrophy) identification of gene carriers.

A total of 128 descendants from one large family with a history of hereditary macular degeneration (HMD) were examined with EOG. Of these, 42 were affected patients, 48 were healthy offsprings to affected parents, and 38 were normal controls. Affected subjects had a light peak/dark trough ratio smaller than 1.40. In the group of offspring of affected parents the Lp/DT ratios showed a bimodal distribution dividing the group into two parts, one with values less than 1.40 and another with values larger than 1.70. Thus carriers of the HMD gene can apparently be identified by use of EOG. The affected subjects and the carriers had a lower base value of the standing potential than the controls.

Adolescent↗
PubMed2025

Engineered virus-like particle-assembled Vegfa-targeting Cas9 ribonucleoprotein treatment alleviates neovascularization in wet age-related macular degeneration.

BACKGROUND: Age-related macular degeneration, particularly the wet form, is a leading cause of vision loss, characterized by vascular endothelial growth factor A (VEGFA) overproduction. Engineered virus-like particles (eVLPs) combine the efficiency of viral systems with the transient nature of non-viral platforms to offer a potential solution for delivering VEGFA-targeting genome editing enzymes in a safe and efficient manner. Here, we investigate the therapeutic efficacy of eVLPs for transient delivery of Vegfa-targeting Cas9 ribonucleoprotein in a laser-induced choroidal neovascularization mouse model of wet age-related macular degeneration. RESULTS: We find that Cas9-eVLPs enables efficient intracellular delivery in vitro, achieving up to 99% insertion and deletion frequency at Vegfa target locus and significant VEGFA protein downregulation in NIH/3T3 cells. A single subretinal injection of Cas9-eVLPs into the mouse retinal pigment epithelium effectively disrupts Vegfa expression, achieving an average indel efficiency of 16.7%. Compared to control groups, the laser-induced choroidal neovascularization mouse model exhibits significantly reduced choroidal neovascularization formation following Cas9-eVLPs intervention, and decreased VEGFA protein levels are detected in the retinal pigment epithelium. Furthermore, the retinal anatomical and functional toxicity are not affected after treatment. CONCLUSIONS: eVLPs exhibit the potential as a safe and efficient delivery platform for Cas9 ribonucleoproteins, achieving precise Vegfa downregulation and significant reduction in choroidal neovascularization in a mouse model of wet age-related macular degeneration. With transient delivery of gene editing enzymes, high editing efficiency, and minimal risk of genomic integration, eVLPs present a promising alternative to conventional delivery systems for advancing genome editing therapies in retinal diseases.

CRISPR-Associated Protein 9↗
PubMed1977

[Correlation between visual acuity and ophthalmoscopic findings in presenile and senile macular degeneration].

The exisiting studies in macular degeneration reveal discrepancies between the ophthalmoscopic signs and the degree in reduction in vision. In this study the results of 156 ophthalmoscopic investigations are presented in order to clarify this correlation between the clinical findings and the loss of vision. The patients are divided into four groups, slight macular degenerations, representing group I, being at one of the scala, and very severe forms, representing group IV, being at the other end. Especially in the group I and II with slight macular degenerations very marked discrepancies were observed between the sligns having been obtained through the ophthalmoscope and the vision. In those cases the visual function was more impaired than to the expected from the ophthalmoscopic signs.

Adult↗
PubMed2026

Adaptive and degenerative mitochondrial remodeling define distinct redox states in age-related macular degeneration.

Age-related macular degeneration (AMD) is associated with mitochondrial dysfunction and oxidative stress, yet the relationship between mitochondrial remodeling, redox homeostasis, and disease progression remains poorly understood. Nonhuman primates (NHPs) develop spontaneous AMD-related phenotypes, including punctate deposits and soft drusen, providing a unique animal model to investigate mitochondrial pathology in the aging retinal pigment epithelium (RPE). We integrated quantitative mitochondrial ultrastructural profiling with flavoprotein fluorescence imaging, plasma metabolomics, and whole-exome sequencing to characterize mitochondrial and redox alterations in aged rhesus macaques with AMD-related lesions. Flavoprotein fluorescence imaging demonstrated increased metabolic heterogeneity in eyes with soft drusen, consistent with altered mitochondrial redox states and oxidative stress. Morphometric analysis identified distinct mitochondrial remodeling patterns across phenotypes. Normal aging was characterized by concentric cristae and type I paracrystalline inclusions. Eyes with punctate deposits exhibited increased mitochondrial fusion-associated morphology, hyperbranching, and type I paracrystalline inclusions, consistent with a stress-responsive mitochondrial remodeling pattern. In contrast, eyes with soft drusen exhibited reduced fusion-associated morphology, reduced structural complexity, and ultrastructural features consistent with mitochondrial deterioration. These ultrastructural patterns were accompanied by distinct plasma metabolomic signatures. Punctate deposits were associated with altered glycolytic, tricarboxylic acid cycle, and redox-buffering metabolites, consistent with differences in stress-responsive metabolism, whereas soft drusen exhibited metabolomic signatures consistent with altered redox homeostasis. Whole-exome sequencing identified a mitochondrial DNA variant, MT:9582G > A, in cytochrome c oxidase subunit III (COX3) associated with the drusen phenotype. Collectively, these findings identify distinct mitochondrial remodeling patterns associated with AMD-related phenotypes in aged rhesus macaques. The convergence of ultrastructural, imaging, metabolomic, and genetic analyses suggests that punctate deposits and soft drusen are associated with different mitochondrial and redox-related responses to chronic retinal stress. These findings provide a framework for future studies investigating mitochondrial biology and redox-driven mechanisms in AMD.

Animals↗
PubMed2026

A 2-step, 2-sample Mendelian randomization study of gut microbiota, blood metabolites and dry age-related macular degeneration.

Dry age-related macular degeneration (dAMD) is the leading cause of blindness among elderly people in developed countries. The main objective of this study is to investigate the causal relationship between gut microbiota (GM), blood metabolites, and dAMD among European participants. Based on the genome-wide association analysis database, double sample Mendelian randomization (MR) analysis was performed on GM, blood metabolites, and dAMD. The inverse-variance weighted method is used to estimate the causal relationship between GM, blood metabolites, and dAMD, while multiple methods are employed to eliminate pleiotropy and heterogeneity. A 2-step MR analysis quantitatively assessed the effect of metabolite-mediated GM on dAMD. In MR analysis, 15 GM were found to be associated with increased or decreased risk of dAMD, and 18 blood metabolites were found to be associated with increased or decreased risk of dAMD. Our research also found that the potential association between GM and dAMD may be mediated by blood metabolite levels, specifically, ADpSGEGDFXAEGGGVR levels accounted for 38.9% of the causal pathway from genus Parasutterella to dAMD. Our research findings indicate that certain GM and blood metabolites can affect the onset of dAMD, and increasing the abundance of genus Parasottella can increase the risk of dAMD through the mediation of ADpSGEGDFXAEGGGVR levels.

Humans↗
PubMed2026

Genetic evidence and cross-species functional characterization implicate CNN2 in age-related macular degeneration susceptibility.

Age-related macular degeneration (AMD) is a leading cause of irreversible visual impairment in the aging population globally. Although genome-wide association studies (GWAS) have identified many AMD susceptibility loci, the genes and mechanisms underlying many of these associations remain unresolved. Here, we integrated expression quantitative trait locus (eQTL) data with AMD GWAS to prioritize nine putative genes. Through in vivo screening in zebrafish, we demonstrated that the downregulation of cnn2 and sarm1 expression led to ocular structural abnormalities and visual functional impairment. Subsequent mouse model studies confirmed that Cnn2 deficiency affected photoreceptor structure and function, impaired contrast sensitivity, and caused abnormalities in cone cell immunostaining. Given that CNN2 is predominantly expressed in endothelial cells, we propose that endothelial dysfunction may cascade to impair photoreceptor function. Collectively, through in silico prioritization and cross-species functional characterization, we identify CNN2 as a candidate susceptibility gene in AMD pathogenesis, providing vital underlying mechanistic insights.

Animals↗
PubMed2025

Pharmacoproteomics in the development of personalised medicine in Age-related Macular Degeneration (PHARPRO-AMD) study protocol.

INTRODUCTION: Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss among people over 55 years of age globally, being neovascular AMD (nAMD) its most aggressive form. Its treatment consists of the use of drugs that block vascular endothelial growth factor (anti-VEGF). Proteomics may allow the identification of differentially expressed proteins between responders and non-responders to each anti-VEGF drug. Thus, the objective of Pharmacoproteomics in the development of personalised medicine in Age-related Macular Degeneration (PHARPRO-AMD) is to find new proteomic biomarkers, predictive of response to antiangiogenic treatment in patients with nAMD. METHODS AND ANALYSIS: PHARPRO-AMD is a nationwide, multicentre, prospective, observational study. Treatment-naïve patients with nAMD starting anti-VEGF therapy will be enrolled and followed up for 2 years. During this period, clinical variables will be gathered to classify treatment response. In addition, blood, tear and vitreous and aqueous humour samples will be collected and will undergo a ZenoSWATH proteomic analysis. Relevant biomarkers identified and response classification will be used to perform a multivariate logistic regression and construct receiver operating characteristic curves. RESULTS: The study is expected to identify a panel of proteomic biomarkers predictive of anti-VEGF treatment response. Integrating data from invasive and non-invasive biological samples may enhance clinical applicability. Once validated, these biomarkers could support the design of future clinical trials on biomarker-guided therapies, helping to optimise treatment regimens and improve visual outcomes. CONCLUSIONS: The PHARPRO-AMD study aims to provide proof-of-concept for biomarker-guided anti-VEGF therapy in nAMD, potentially improving vision outcomes. A notable limitation is the exclusion of patients with visual acuity above 73 Early Treatment of Diabetic Retinopathy Study letters, a criterion chosen to reduce potential ceiling effects and improve response assessment accuracy. ETHICS AND DISSEMINATION: Approved by the Galician Network of Ethics Committees, with nationwide validity. Anonymised data will be deposited in open-access repositories and published in peer-reviewed journals. TRIAL REGISTRATION NUMBER: Spanish Clinical Studies Registry (REec) (0033-2024-OBS).

Humans↗
PubMed1978

Senile macular degeneration and alteration of the metabolism of the lipids.

An accurate study on the alterations of lipid metabolism was made on a sample of 30 patients affected by senile macular degeneration and 13 patients affected by senile macular degeneration complicated by retinopathy due to hyperlipidemia. The authors came to the conclusion that hyperlipidemia can complicate simple macular degeneration, even if a close correlation between the two phenomena can be excluded.

Age Factors↗
PubMed1977

Pseudovitelliform macular degeneration.

Three patients with vitelliform-like macular lesions had normal electroooculogram (EOG) light-peak/dark-trough ratios, unlike typical cases of vitelliform dystrophy (Best macular dystrophy). Leakage of fluorescein dye from perifoveal cappillaries implicated an increased permeability of these vessels as the probable cause for the vitelliform-appearing lesions. All patients with vitelliform lesions demonstrating normal EOG ratios should have an evaluation by fluorescein angiography to rule out a diagnosis of what we prefer to call pseudovitelliform macular degeneration.

Aged↗
PubMed1977

Senile macular degeneration: a histopathologic study.

The histopathologic features of 176 eyes from 115 patients with senile macular degeneration have been studied. The results support the view that older persons with drusen are predisposed to the development of serous detachments, areolar retinal pigment epithelial atrophy, and subretinal pigment epithelial neovascularization. Direct clinicopathologic correlation was accomplished in 11 cases. Serial sections through the macular lesions were prepared and studied in 45 eyes. Five eyes were studied with stepped-serial sections through the macula at 0.1 mm intervals. Two-dimensional map reconstruction of the macular lesion of eight eyes was performed. Electron microscopic study of Bruch's membrane was performed in five eyes. A flow chart illustrating the interrelationships of the various morphologic forms of senile macular degeneration is proposed.

Adult↗
PubMed2026

Standard tea intake is causally associated with a reduced risk of wet age-related macular degeneration: a Mendelian randomization study.

Researchers have posited that increased consumption of tea and coffee may be associated with more favorable treatment outcomes in patients with age-related macular degeneration (AMD). However, there is no clear evidence regarding the causal associations. To delve deeper into this potential connection, scientists used a rigorous method known as Mendelian randomization (MR). This technique was used to explore the causal impact of tea and coffee consumption on the development or progression of AMD. With the aim of investigating the cause-and-effect relationship between 16 tea- and coffee-consuming subtypes and 3 AMD, we designed a two-sample MR study using comprehensive data from genome-wide association studies (GWAS). The major approach adopted was inverse variance weighting (IVW). Furthermore, we implemented complementary methods like the weighted median (WM), weighted mode, and MR-Egger to strengthen our findings. Sensitivity analyses, including MR-Egger, MR-PRESSO, leave-one-out, and Cochran's Q tests, were used to validate results, explore heterogeneity and pleiotropy, and pinpoint potential biases. Two hundred and sixty-eight instrumental variables were selected for MR analysis. The results showed that standard tea intake may be a protective factor for wet AMD [odds ratio (OR) = 0.7076, 95% confidence interval (CI) = 0.5776-0.8668, P = 8 × 10-4, PFDR = 0.0402]. Sensitivity analysis suggests that the results are robust. Our findings provide genetic evidence that standard tea intake is a protective factor against wet AMD, providing new insights into early risk stratification and prevention strategies for the disease.NEW & NOTEWORTHY This study investigates the potential causal relationship between tea and coffee consumption and age-related macular degeneration (AMD) using Mendelian randomization. Analyzing data from genome-wide association studies, we focused on 16 beverage subtypes and 3 AMD conditions. Our findings suggest that standard tea consumption may protect against wet AMD, with robust evidence supporting this link. The results offer new insights into risk stratification and prevention strategies for AMD, highlighting the importance of dietary factors in eye health.

Mendelian Randomization Analysis↗
PubMed1979

Senile macular degeneration and risk factors: a case-control study.

A case-control study of patients ranging in age from 52 to 88 years was done to determine any possible relationship between health factors and senile macular degeneration. Thirty cases and 30 controls were pair-matched according to age, sex, and race. Chart reviews and telephone interviews were the methods of data collection used. The patients were interviewed concerning a history of vascular disease and other health characteristics. The data were analyzed by a paired-sample method. The results of the study showed a definite relationship with age and sex. Moreover, a significant relationship between refractive error and senile macular degeneration was noted. Such an association has not been previously reported. No relationship was found between vascular disease and senile macular degeneration.

Adolescent↗
PubMed1977

Vitelliform macular degeneration.

Six patients had macular vitelliform lesions similar to those in Best's vitelliform foveal dystrophy but all had normal electro-oculograms (EOG) and no familial involvement. Two patients had an exudative form of degenerative chroidopathy. The remining four had vitelliform lesions of unknown etiology. Fluorescein angiography demonstrated slight hyperfluorescence through rarefied retinal pigment epithelium but no leakage occurred from perifoveal retinal capillaries. The diagnosis of vitelliform foveal dystrophy should be restricted to those patients who have the morphologic lesions, and abnormal EOG, and a contributory family history.

Adult↗
PubMed1977

Visually evoked response testing with a stimulator-ophthalmoscope. Macular scars, hereditary macular degenerations, and retinitis pigmentosa.

Visually evoked responses (VERs) were recorded from 47 patients under age 60 years with macular scars, hereditary macular degenerations, or retinitis pigmentosa. A hand-held, two-channel stimulator-ophthalmoscope was used to present to the central fovea a 1.5 degrees flickering stimulus centrally superimposed on a steady 10 degrees background. All 31 patients with visual acuity (VA) 20/50 or less had abnormal VERs; among patients with VA 20/25 to 20/40, all six with macular degenerations and five of ten with retinitis pigmentosa also showed abnormal VERs. Abnormal VERs were either out of phase or indistinguishable from noise. Sensitivity of the technique depended on a low ratio of stimulus to background retinal illuminance and the fact that the stimulus could be visualized by the examiner through the ophthalmoscope and maintained on the central fovea througout testing.

Adolescent↗
PubMed1979

Senile disciform macular degeneration: features indicating suitability for photocoagulation.

During a 1-year period 398 new patients were seen with disciform macular degeneration (530 eyes). The lesions were studied retrospectively, and those in which the neovascular tissue did not underlie the fovea, and therefore were treatable, were identified. The following conclusions were drawn: (1) Treatment is possible in most patients with good acuity and few with poor acuity. (2) Treatment is possible in a large proportion of patients with a short history and few with a long history of visual loss. (3) As many as 50% of all patients with senile disciform macular degeneration may be amenable to treatment if seen early enough in the course of their disease. (4) Over one-third of eyes with lesions that are untreated have a visual acuity of 6/60 or better 3 years after the onset of symptoms. (5) If a controlled trial proves that treatment is beneficial, these results emphasise the need for rapid referral and show that these patients will generate a large additional clinical load.

Humans↗
PubMed1977

Changes in the choriocapillaris associated with senile macular degeneration.

The choroids of 107 postmortem aged eyes were used in this study. Twenty-six eyes were from patients with a clinical history of senile macular degeneration. Five eyes had early or questionable evidence of this condition. The remaining 76 eyes were from normal-aged patients. The choroids were processed by the trypsin digestion technique of Kuwabara and Cogan, as modified by Friedman, Smith and Kuwabara. This study was limited to the choriocapillaris. The most important changes noted in eyes with senile macular degeneration were: (1) thickening and irregular shape of the intercapillary septa; (2) narrowing of the lumen of the capillaries; (3) diminution or loss of cellularity of the capillaries; and (4) basophila of the macular area. The possible effects of these changes on the transport of oxygen and metabolites from the choriocapillaris to the outer layers of the retina are discussed.

Age Factors↗