Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics

Liu, Melissa M.; Chan, Chi‐Chao; Tuo, Jingsheng

doi:10.1186/1479-7364-6-13

Cited by 62 publications

(49 citation statements)

References 88 publications

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“…countries (Liu, Chan, & Tuo, 2012). This condition involves loss of central vision, including loss of contrast sensitivity and visual acuity, mostly caused by a foveal scotoma.…”

Section: Macular Degeneration (Md) Is the Leading Cause Of Visual Impmentioning

confidence: 99%

Perceptual learning leads to long lasting visual improvement in patients with central vision loss

Maniglia

Pavan

Sato³

et al. 2016

RNN

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2 AbstractPurpose: The study investigated whether perceptual learning (PL) of a task consisting in detecting a low contrast Gabor patch flanked above and below by high contrast Gabor patches presented monocularly in the preferred retinal locus (PRL) of patients with macular degeneration (MD), improved their residual visual functions. Method:We measured contrast detection thresholds using both a Yes/No task (three MD patients and three controls) and a temporal two-alternative forced-choice task (2AFC; four MD patients and three controls).Results: Both tasks produced a significant improvement in contrast sensitivity for the trained target.However, only in the case of the temporal-2AFC this improvement depended on the target-toflankers distance. Furthermore, in both tasks PL improved visual acuity but with the temporal-2AFC task we found a higher degree of generalization of the training to untrained stimuli and tasks.In fact, we found a reduction of the crowding effect and an improvement of the contrast sensitivity for untrained spatial frequencies.Although PL is more effective with a temporal-2AFC task, it is also present with a Yes/No task, suggesting that PL reflects sensory enhancement, rather than improvement in decision mechanisms.Most importantly, follow-up tests on MD patients showed that PL effects were retained between four and eight months, suggesting PL induced long-term neural plasticity in the visual cortex. Conclusion:The results show for the first time that PL with a collinear configuration has strong, non-invasive and long lasting rehabilitative potential to improve vision in the PRL of patients with central vision loss.3

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“…countries (Liu, Chan, & Tuo, 2012). This condition involves loss of central vision, including loss of contrast sensitivity and visual acuity, mostly caused by a foveal scotoma.…”

Section: Macular Degeneration (Md) Is the Leading Cause Of Visual Impmentioning

confidence: 99%

Perceptual learning leads to long lasting visual improvement in patients with central vision loss

Maniglia

Pavan

Sato³

et al. 2016

RNN

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“…Genetic and environmental risk factors have been implied in its pathology [5,6]. Among them, smoking is the main modifiable risk factor and age and family history the main nonmodifiables [7].…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Age-Related Macular Degeneration in Portugal: The Coimbra Eye Study - Report 1

Cachulo

Lobo²,

Figueira

et al. 2015

Ophthalmologica

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Purpose: To evaluate the age- and gender-specific prevalence of early and late age-related macular degeneration (AMD) in a Portuguese population-based sample. Methods: All patients aged ≥55 years of a Portuguese primary health-care unit were recruited for a cross-sectional population-based study. Responders underwent complete ophthalmological examination and digital fundus imaging. Early and late AMD was defined according to the International Age-Related Macular Epidemiological Study Group Classification, and the adopted staging for AMD was the same as that used in the Rotterdam study. The age- and gender-adjusted prevalence of early and late forms of AMD was calculated. Results: Of the 4,370 eligible subjects, 3,000 underwent study procedures (68.6% response rate) and 2,975 were included in the analysis; they had a mean age of 68.9 ± 8.6 years. The overall prevalence of early and late AMD was 15.53% (95% CI 14.25-16.88) and 0.67% (95% CI 0.41-1.04), respectively. Neovascular AMD (NV-AMD) and geographic atrophy (GA) accounted for 0.44% (95% CI 0.23-0.75) and 0.27% (95% CI 0.12-0.53) of individuals, respectively. The highest prevalence of advanced AMD was among those aged ≥75 years (1.13% for NV-AMD; 0.63% for GA). Conclusions: To our knowledge, this is the first AMD epidemiological study in a Portuguese population. The early forms of the disease had a similar prevalence to that of other large-scale population-based cohorts, but late AMD was less frequent than previously reported.

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“…The genomic rearrangements responsible for CNVs can lead to pathogenic phenotypes by modulating gene dosage, interrupting a gene, creating a fusion gene, exerting position effects, or unmasking a deleterious recessive mutation. [27][28][29][30] Therefore, higher CN does not always mean gain-of-function, it could also result in loss-of-function. Defects in DNA repair pathways are connected to many different types of diseases.…”

Section: Discussionmentioning

confidence: 99%

Copy Number Variations of DNA Repair Genes and the Age-Related Cataract: Jiangsu Eye Study

Jiang

Zhou

Yao

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. DNA damage is critical in the pathogenesis of agerelated cataract (ARC). This study examined the association of copy number variations (CNVs) of DNA repair genes with susceptibility to ARC in the Han Chinese.METHODS. Study participants were from the population-based Jiangsu Eye Study, which includes 780 ARC patients and 525 controls. DNA was extracted from blood for copy number (CN) assays using RT-PCR. The Comet assay was to assess DNA damage in peripheral lymphocytes. RESULTS.Novel CNV was detected in WRN. Initial analyses found that CN ¼ 3þ for WRN had an increased risk of ARC (odds ratio [OR] ¼ 1.88, P ¼ 0.02); CN ¼ 1 for HSF4 had an increased risk of ARC (OR ¼ 4.09, P ¼ 0.004). CN ¼ 3þ for WRN was associated with nuclear and posterior subcapsular cataract (OR ¼ 2.06, P ¼ 0.02; OR ¼ 3.72, P ¼ 0.02). CN ¼ 1 for HSF4 was associated with nuclear and posterior subcapsular cataract (OR ¼ 5.73, P ¼ 0.001; OR ¼ 6.80, P ¼ 0.01). The combination WRN and HSF4 CNVs markedly increased the risk of ARC; the OR was increased from 2.63 by HSF4 alone to 6.80 by combined WRN and HSF4 CNVs. However, after multiple testing correction, only HSF4 CNV was associated with ARC overall and with nuclear and posterior subcapsular cataract as well. The DNA damage in lymphocytes from ARC patients was significantly higher when compared to normal controls.CONCLUSIONS. HSF4 and WRN CNVs might be involved in ARC pathogenesis in the Han Chinese. These findings suggest the importance of DNA repair in ARC susceptibility and distinct risk factors in ARC subtypes. (Invest Ophthalmol Vis Sci. 2013; 54:932-938)

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Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics

Cited by 62 publications

References 88 publications

Perceptual learning leads to long lasting visual improvement in patients with central vision loss

Perceptual learning leads to long lasting visual improvement in patients with central vision loss

Prevalence of Age-Related Macular Degeneration in Portugal: The Coimbra Eye Study - Report 1

Copy Number Variations of DNA Repair Genes and the Age-Related Cataract: Jiangsu Eye Study

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