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Asia-Pacific Journal of Ophthalmology... 2016Age-related macular degeneration (AMD), widely prevalent across the globe, is a major stakeholder among adult visual morbidity and blindness, not only in the Western... (Review)
Review
Age-related macular degeneration (AMD), widely prevalent across the globe, is a major stakeholder among adult visual morbidity and blindness, not only in the Western world but also in Asia. Several risk factors have been identified, including critical genetic factors, which were never imagined 2 decades ago. The etiopathogenesis is emerging to demonstrate that immune and complement-related inflammation pathway members chronically exposed to environmental insults could justifiably influence disease morbidity and treatment outcomes. Approximately half a dozen physiological and biochemical cascades are disrupted in the AMD disease genesis, eventually leading to the distortion and disruption of the subretinal space, subretinal pigment epithelium, and Bruch membrane, thus setting off chaos and disorder for signs and symptoms to manifest. Approximately 3 dozen genetic factors have so far been identified, including the recent ones, through powerful genomic technologies and large robust sample sizes. The noteworthy genetic variants (common and rare) are complement factor H, complement factor H-related genes 1 to 5, C3, C9, ARMS2/HTRA1, vascular endothelial growth factor A, vascular endothelial growth factor receptor 2/KDR, and rare variants (show causal link) such as TIMP3, fibrillin, COL4A3, MMP19, and MMP9. Despite the enormous amount of scientific information generated over the years, diagnostic genetic or biomarker tests are still not available for clinicians to understand the natural course of the disease and its management in a patient. However, further research in the field should reduce this gap not only by aiding the clinician but also through the possibilities of clinical intervention with complement pathway-related inhibitors entering preclinical and clinical trials in the near future.
Topics: Complement System Proteins; Extracellular Matrix; Eye Proteins; Genetic Predisposition to Disease; Humans; Lipid Metabolism; Macular Degeneration; Risk Factors; Vascular Endothelial Growth Factor A
PubMed: 27488064
DOI: 10.1097/APO.0000000000000223 -
The British Journal of Ophthalmology Mar 2024Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by... (Review)
Review
Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large gene (OMIM 601691). Major advances in understanding both the clinical and molecular features, as well as the underlying pathophysiology, have culminated in many completed, ongoing and planned human clinical trials of novel therapies.The aims of this concise review are to describe (1) the detailed phenotypic and genotypic characteristics of the disease, multimodal imaging findings, natural history of the disease, and pathogenesis, (2) the multiple avenues of research and therapeutic intervention, including pharmacological, cellular therapies and diverse types of genetic therapies that have either been investigated or are under investigation and (3) the exciting novel therapeutic approaches on the translational horizon that aim to treat STGD1 by replacing the entire 6.8 kb open reading frame.
Topics: Humans; Stargardt Disease; Phenotype; Mutation; Macular Degeneration; Genotype; ATP-Binding Cassette Transporters
PubMed: 37940365
DOI: 10.1136/bjo-2022-323071 -
Turkish Journal of Medical Sciences 2015This review highlight the similarities in the pathogenesis between Alzheimer disease and age-related macular degeneration. All studies published between 1990 and 2014... (Review)
Review
This review highlight the similarities in the pathogenesis between Alzheimer disease and age-related macular degeneration. All studies published between 1990 and 2014 were reviewed to identify the common pathological pathways. Alzheimer disease and age-related macular degeneration share common features such as vitronectin and amyloid-β accumulation, increased oxidative stress, and apolipoprotein and complement activation pathways, which are reviewed as histologic and immunologic common features.
Topics: Age Factors; Alzheimer Disease; Amyloid beta-Peptides; Apolipoproteins; Complement Activation; Humans; Macular Degeneration; Oxidative Stress; Vitronectin
PubMed: 26738339
DOI: 10.3906/sag-1406-146 -
International Journal of Molecular... Jul 2020Zinc supplementation is reported to slow down the progression of age-related macular degeneration (AMD), but there is no general consensus on the beneficiary effect on... (Review)
Review
Zinc supplementation is reported to slow down the progression of age-related macular degeneration (AMD), but there is no general consensus on the beneficiary effect on zinc in AMD. As zinc can stimulate autophagy that is declined in AMD, it is rational to assume that it can slow down its progression. As melanosomes are the main reservoir of zinc in the retina, zinc may decrease the number of lipofuscin granules that are substrates for autophagy. The triad zinc-autophagy-AMD could explain some controversies associated with population studies on zinc supplementation in AMD as the effect of zinc on AMD may be modulated by genetic background. This aspect was not determined in many studies regarding zinc in AMD. Zinc deficiency induces several events associated with AMD pathogenesis, including increased oxidative stress, lipid peroxidation and the resulting lipofuscinogenesis. The latter requires autophagy, which is impaired. This is a vicious cycle-like reaction that may contribute to AMD progression. Promising results with zinc deficiency and supplementation in AMD patients and animal models, as well as emerging evidence of the importance of autophagy in AMD, are the rationale for future research on the role of autophagy in the role of zinc supplementation in AMD.
Topics: Animals; Autophagy; Dietary Supplements; Disease Progression; Humans; Macular Degeneration; Oxidative Stress; Retina; Zinc
PubMed: 32679798
DOI: 10.3390/ijms21144994 -
Epigenomics Jun 2013
Topics: DNA Methylation; Epigenomics; Humans; Macular Degeneration; Promoter Regions, Genetic; Receptors, Interleukin
PubMed: 23750638
DOI: 10.2217/epi.13.19 -
Workplace Health & Safety Aug 2014Age-related macular degeneration (AMD) is a common and painless eye condition that is the leading cause of vision loss for people older than 50 years. Occupational and...
Age-related macular degeneration (AMD) is a common and painless eye condition that is the leading cause of vision loss for people older than 50 years. Occupational and environmental health nurses can aid in slowing the progression of AMD by encouraging workers to have periodic eye examinations, maintain good health practices, and notify health care professionals if they notice blurred vision or blind spots in central vision.
Topics: Age Factors; Aged; Aged, 80 and over; Blindness; Health Promotion; Humans; Macular Degeneration; Middle Aged; Nurse's Role; Occupational Health Nursing; Risk Factors; Workplace
PubMed: 25093372
DOI: 10.1177/216507991406200807 -
Retina (Philadelphia, Pa.) Mar 2024The LIGHTSITE III study evaluated multiwavelength photobiomodulation (PBM) therapy in nonexudative (dry) age-related macular degeneration (AMD) using the LumiThera... (Randomized Controlled Trial)
Randomized Controlled Trial
LIGHTSITE III: 13-Month Efficacy and Safety Evaluation of Multiwavelength Photobiomodulation in Nonexudative (Dry) Age-Related Macular Degeneration Using the Lumithera Valeda Light Delivery System.
PURPOSE
The LIGHTSITE III study evaluated multiwavelength photobiomodulation (PBM) therapy in nonexudative (dry) age-related macular degeneration (AMD) using the LumiThera Valeda Light Delivery System.
METHODS
LIGHTSITE III is a randomized, controlled trial to assess the safety and effectiveness of PBM in dry AMD. Subjects were given multiwavelength PBM (590, 660, and 850 nm) or Sham treatment delivered in a series of nine sessions over 3 to 5 weeks every four months over 24 months. Subjects were assessed for efficacy and safety outcomes. Data from the 13-month analysis are presented in this report.
RESULTS
A total of 100 subjects (148 eyes) with dry AMD were randomized. LIGHTSITE III met the primary efficacy best-corrected visual acuity endpoint with a significant difference between PBM (n = 91 eyes) and Sham (n = 54 eyes) groups (Between group difference: 2.4 letters (SE 1.15), CI: -4.7 to -0.1, P = 0.02) (PBM alone: 5.4 letters (SE 0.96), CI: 3.5 to 7.3, P < 0.0001; Sham alone: 3.0 letters (SE 1.13), CI: 0.7-5.2, P < 0.0001). The PBM group showed a significant decrease in new onset geographic atrophy ( P = 0.024, Fisher exact test, odds ratio 9.4). A favorable safety profile was observed.
CONCLUSION
LIGHTSITE III provides a prospective, randomized, controlled trial showing improved clinical and anatomical outcomes in intermediate dry AMD following PBM therapy.
Topics: Humans; Low-Level Light Therapy; Prospective Studies; Visual Acuity; Macular Degeneration; Eye; Geographic Atrophy
PubMed: 37972955
DOI: 10.1097/IAE.0000000000003980 -
International Journal of Molecular... Feb 2022Age-related macular degeneration (AMD) is an eye disease typically associated with the aging and can be classified into two types-namely, the exudative and the... (Review)
Review
Age-related macular degeneration (AMD) is an eye disease typically associated with the aging and can be classified into two types-namely, the exudative and the nonexudative AMD. Currently available treatments for exudative AMD use intravitreal injections, which are associated with high risk of infection that can lead to endophthalmitis, while no successful treatments yet exist for the nonexudative form of AMD. In addition to the pharmacologic therapies administered by intravitreal injection already approved by the Food and Drug Administration (FDA) in exudative AMD, there are some laser treatments approved that can be used in combination with the pharmacological therapies. In this review, we discuss the latest developments of treatment options for AMD. Relevant literature available from 1993 was used, which included original articles and reviews available in PubMed database and also information collected from Clinical Trials Gov website using "age-related macular degeneration" and "antiangiogenic therapies" as keywords. The clinical trials search was limited to ongoing trials from 2015 to date.
Topics: Angiogenesis Inhibitors; Geographic Atrophy; Humans; Intravitreal Injections; Macular Degeneration
PubMed: 35269743
DOI: 10.3390/ijms23052592 -
Experimental Biology and Medicine... Oct 2021Age-related macular degeneration (AMD) is a leading cause of severe vision loss. With our aging population, it may affect 288 million people globally by the year 2040.... (Review)
Review
Age-related macular degeneration (AMD) is a leading cause of severe vision loss. With our aging population, it may affect 288 million people globally by the year 2040. AMD progresses from an early and intermediate dry form to an advanced one, which manifests as choroidal neovascularization and geographic atrophy. Conversion to AMD-related exudation is known as progression to neovascular AMD, and presence of geographic atrophy is known as progression to advanced dry AMD. AMD progression predictions could enable timely monitoring, earlier detection and treatment, improving vision outcomes. Machine learning approaches, a subset of artificial intelligence applications, applied on imaging data are showing promising results in predicting progression. Extracted biomarkers, specifically from optical coherence tomography scans, are informative in predicting progression events. The purpose of this mini review is to provide an overview about current machine learning applications in artificial intelligence for predicting AMD progression, and describe the various methods, data-input types, and imaging modalities used to identify high-risk patients. With advances in computational capabilities, artificial intelligence applications are likely to transform patient care and management in AMD. External validation studies that improve generalizability to populations and devices, as well as evaluating systems in real-world clinical settings are needed to improve the clinical translations of artificial intelligence AMD applications.
Topics: Aging; Algorithms; Biomarkers; Computational Biology; Deep Learning; Disease Progression; Female; Humans; Macular Degeneration; Prognosis; Retinal Vessels; Tomography, Optical Coherence; Visual Acuity
PubMed: 34404252
DOI: 10.1177/15353702211031547 -
Developments in Ophthalmology 2014While age-related macular degeneration (AMD) is a leading cause of central vision loss among the elderly, many inherited diseases that present earlier in life share... (Review)
Review
While age-related macular degeneration (AMD) is a leading cause of central vision loss among the elderly, many inherited diseases that present earlier in life share features of AMD. These diseases of juvenile-onset macular degeneration include Stargardt disease, Best disease, retinitis pigmentosa, X-linked retinoschisis, and other allied disorders. In particular, they can be accompanied by the appearance of drusen, geographic atrophy, macular hyperpigmentation, choroidal neovascularization, and disciform scarring just as in AMD, and often may be confused for the adult form of the disease. Diagnosis based on funduscopic findings alone can be challenging. However, the use of diagnostic studies such as electroretinography, electrooculography, optical coherence tomography, and fundus autofluorescence in conjunction with genetic testing can lead to an accurate diagnosis.
Topics: Age of Onset; Blindness; Electroretinography; Global Health; Humans; Incidence; Macular Degeneration; Tomography, Optical Coherence
PubMed: 24732760
DOI: 10.1159/000357293