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Results: 1 to 5 of 5

Publication Record


Genetic Association Analysis of Drusen Progression.
Hoffman JD, van Grinsven MJ, Li C, Brantley M, McGrath J, Agarwal A, Scott WK, Schwartz SG, Kovach J, Pericak-Vance M, Sanchez CI, Haines JL
(2016) Invest Ophthalmol Vis Sci 57: 2225-31
MeSH Terms: Aged, Disease Progression, Female, Fundus Oculi, Genetic Association Studies, Genetic Predisposition to Disease, Genotyping Techniques, Humans, Macular Degeneration, Male, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Retinal Drusen, Risk Factors
Show Abstract · Added February 23, 2017
PURPOSE - Age-related macular degeneration is a common form of vision loss affecting older adults. The etiology of AMD is multifactorial and is influenced by environmental and genetic risk factors. In this study, we examine how 19 common risk variants contribute to drusen progression, a hallmark of AMD pathogenesis.
METHODS - Exome chip data was made available through the International AMD Genomics Consortium (IAMDGC). Drusen quantification was carried out with color fundus photographs using an automated drusen detection and quantification algorithm. A genetic risk score (GRS) was calculated per subject by summing risk allele counts at 19 common genetic risk variants weighted by their respective effect sizes. Pathway analysis of drusen progression was carried out with the software package Pathway Analysis by Randomization Incorporating Structure.
RESULTS - We observed significant correlation with drusen baseline area and the GRS in the age-related eye disease study (AREDS) dataset (ρ = 0.175, P = 0.006). Measures of association were not statistically significant between drusen progression and the GRS (P = 0.54). Pathway analysis revealed the cell adhesion molecules pathway as the most highly significant pathway associated with drusen progression (corrected P = 0.02).
CONCLUSIONS - In this study, we explored the potential influence of known common AMD genetic risk factors on drusen progression. Our results from the GRS analysis showed association of increasing genetic burden (from 19 AMD associated loci) to baseline drusen load but not drusen progression in the AREDS dataset while pathway analysis suggests additional genetic contributors to AMD risk.
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14 MeSH Terms
Regression of Some High-risk Features of Age-related Macular Degeneration (AMD) in Patients Receiving Intensive Statin Treatment.
Vavvas DG, Daniels AB, Kapsala ZG, Goldfarb JW, Ganotakis E, Loewenstein JI, Young LH, Gragoudas ES, Eliott D, Kim IK, Tsilimbaris MK, Miller JW
(2016) EBioMedicine 5: 198-203
MeSH Terms: Aged, Atherosclerosis, Atorvastatin, Female, Humans, Macular Degeneration, Male, Middle Aged, Pregnancy, Prospective Studies, Retinal Detachment, Retinal Drusen, Retinal Pigment Epithelium, Risk Factors, Tomography, Optical Coherence, Visual Acuity
Show Abstract · Added March 30, 2020
IMPORTANCE - Age-related macular degeneration (AMD) remains the leading cause of blindness in developed countries, and affects more than 150 million worldwide. Despite effective anti-angiogenic therapies for the less prevalent neovascular form of AMD, treatments are lacking for the more prevalent dry form. Similarities in risk factors and pathogenesis between AMD and atherosclerosis have led investigators to study the effects of statins on AMD incidence and progression with mixed results. A limitation of these studies has been the heterogeneity of AMD disease and the lack of standardization in statin dosage.
OBJECTIVE - We were interested in studying the effects of high-dose statins, similar to those showing regression of atherosclerotic plaques, in AMD.
DESIGN - Pilot multicenter open-label prospective clinical study of 26 patients with diagnosis of AMD and the presence of many large, soft drusenoid deposits. Patients received 80 mg of atorvastatin daily and were monitored at baseline and every 3 months with complete ophthalmologic exam, best corrected visual acuity (VA), fundus photographs, optical coherence tomography (OCT), and blood work (AST, ALT, CPK, total cholesterol, TSH, creatinine, as well as a pregnancy test for premenopausal women).
RESULTS - Twenty-three subjects completed a minimum follow-up of 12 months. High-dose atorvastatin resulted in regression of drusen deposits associated with vision gain (+ 3.3 letters, p = 0.06) in 10 patients. No subjects progressed to advanced neovascular AMD.
CONCLUSIONS - High-dose statins may result in resolution of drusenoid pigment epithelial detachments (PEDs) and improvement in VA, without atrophy or neovascularization in a high-risk subgroup of AMD patients. Confirmation from larger studies is warranted.
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MeSH Terms
The Relationship Between Reticular Pseudodrusen and Severity of AMD.
Kovach JL, Schwartz SG, Agarwal A, Brantley MA, Pan SS, Haines JL, Scott WK, Pericak-Vance MA
(2016) Ophthalmology 123: 921-3
MeSH Terms: Geographic Atrophy, Humans, Multimodal Imaging, Optical Imaging, Retinal Drusen, Retrospective Studies, Risk Factors, Severity of Illness Index, Tomography, Optical Coherence, Wet Macular Degeneration
Added February 23, 2017
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10 MeSH Terms
Statistical characterization and segmentation of drusen in fundus images.
Santos-Villalobos H, Karnowski TP, Aykac D, Giancardo L, Li Y, Nichols T, Tobin KW, Chaum E
(2011) Annu Int Conf IEEE Eng Med Biol Soc 2011: 6236-41
MeSH Terms: Algorithms, Atrophy, Colorimetry, Databases, Factual, Disease Progression, Fundus Oculi, Humans, Image Processing, Computer-Assisted, Macular Degeneration, Models, Statistical, Neural Networks, Computer, Normal Distribution, Pigmentation, ROC Curve, Retina, Retinal Drusen
Show Abstract · Added June 11, 2018
Age related Macular Degeneration (AMD) is a disease of the retina associated with aging. AMD progression in patients is characterized by drusen, pigmentation changes, and geographic atrophy, which can be seen using fundus imagery. The level of AMD is characterized by standard scaling methods, which can be somewhat subjective in practice. In this work we propose a statistical image processing approach to segment drusen with the ultimate goal of characterizing the AMD progression in a data set of longitudinal images. The method characterizes retinal structures with a statistical model of the colors in the retina image. When comparing the segmentation results of the method between longitudinal images with known AMD progression and those without, the method detects progression in our longitudinal data set with an area under the receiver operating characteristics curve of 0.99.
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16 MeSH Terms
Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
Michaelides M, Jenkins SA, Brantley MA, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR
(2006) Invest Ophthalmol Vis Sci 47: 3085-97
MeSH Terms: Adult, Age of Onset, Aged, Amino Acid Substitution, Atrophy, DNA Mutational Analysis, Dark Adaptation, Disease Progression, Extracellular Matrix Proteins, Female, Fluorescein Angiography, Humans, Male, Middle Aged, Mutation, Missense, Phenotype, Pigment Epithelium of Eye, Retina, Retinal Drusen, Retinal Neovascularization, Visual Field Tests, Visual Fields
Show Abstract · Added December 10, 2013
PURPOSE - To determine (1) clinical features that distinguish maculopathy due to the R345W substitution in fibulin-3 from other forms of inherited or early-onset drusen, (2) the phenotypic variability, and (3) the extent of retinal disease in those with a positive molecular diagnosis.
METHODS - Affected individuals underwent ophthalmic examination, digital color fundus photography, fundus autofluorescence (AF) imaging, and psychophysical testing with automated photopic and dark-adapted perimetry and fine matrix mapping. Blood samples were taken for DNA extraction and screening for the R345W mutation in fibulin-3. Patients were subsequently divided into mutation-positive and -negative groups, to compare the identified phenotypic findings in these two sets of subjects.
RESULTS - Twenty-nine subjects from 19 families were ascertained with inherited or early-onset drusen. Twenty-four (83%) subjects from 15 families were found to harbor the R345W fibulin-3 mutation. Peripapillary deposition and a radial distribution of macular drusen were consistent, distinguishing signs in the mutation-positive group. Subretinal neovascular membrane (SRNVM) was a rare occurrence, affecting only 1 of 48 eyes, whereas hyperpigmentation and atrophy of the retinal pigment epithelium (RPE) were common in older mutation-positive patients. Increased AF corresponding to the drusen was detected in both the mutation-positive and -negative groups. The phenotype in the group of patients positive for the R345W mutation was extremely variable, with evidence of interocular, intrafamilial, and interfamilial variability in visual loss, natural history, ophthalmoscopic findings, autofluorescence imaging, and psychophysical data. The novel finding of nonpenetrance was observed in a 62-year-old asymptomatic, mutation-positive man. The findings from detailed perimetry performed on a subset of subjects were consistent with the presence of widespread retinal dysfunction not isolated to the macula.
CONCLUSIONS - Marked inter- and intrafamilial variation associated with the fibulin-3 R345W mutation in terms of retinal appearance, severity, progression, and nonpenetrance were identified. It was noted that SRNVM is a rare occurrence in R345W fibulin-3 maculopathy. These findings are helpful for advice regarding prognosis and for genetic counseling. The findings established that the presence of peripapillary deposit is highly likely to indicate that a patient carries the R345W mutation.
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22 MeSH Terms