Relationship Among CFH and ARMS2 Genotypes, Macular Pigment Optical Density, and Neuroretinal Function in Persons Without Age-Related Macular Degeneration

Feigl, Beatrix; Morris, C. Phillip; Brown, Brian; Zele, Andrew J.

doi:10.1001/archophthalmol.2012.1940

Cited by 6 publications

(3 citation statements)

References 72 publications

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“…Sleep quality was assessed using the Pittsburgh Sleep Quality Index (PSQI) 78 . DNA genotyping was performed to detect the OPN4 gene single nucleotide polymorphisms (SNPs) P10L and I394T; genotyping followed established procedures and as previously performed in our studies 79 80 .…”

Section: Methodsmentioning

confidence: 99%

Quadrant Field Pupillometry Detects Melanopsin Dysfunction in Glaucoma Suspects and Early Glaucoma

Adhikari

Zele

Thomas

et al. 2016

Sci Rep

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It is difficult to detect visual function deficits in patients at risk for glaucoma (glaucoma suspects) and at early disease stages with conventional ophthalmic tests such as perimetry. To this end, we introduce a novel quadrant field measure of the melanopsin retinal ganglion cell mediated pupil light response corresponding with typical glaucomatous arcuate visual field defects. The melanopsin-mediated post-illumination pupil response (PIPR) was measured in 46 patients with different stages of glaucoma including glaucoma suspects and compared to a healthy group of 21 participants with no disease. We demonstrate that the superonasal quadrant PIPR differentiated glaucoma suspects and early glaucoma patients from controls with fair (AUC = 0.74) and excellent (AUC = 0.94) diagnostic accuracy, respectively. The superonasal PIPR provides a linear functional correlate of structural retinal nerve fibre thinning in glaucoma suspects and early glaucoma patients. This first report that quadrant PIPR stimulation detects melanopsin dysfunction in patients with early glaucoma and at pre-perimetric stages may have future implications in treatment decisions of glaucoma suspects.

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Section: Methodsmentioning

confidence: 99%

Quadrant Field Pupillometry Detects Melanopsin Dysfunction in Glaucoma Suspects and Early Glaucoma

Adhikari

Zele

Thomas

et al. 2016

Sci Rep

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“…The DNA was extracted from saliva samples (Oragene DNA self-collection kit, DNA Genotek Inc, Ottawa, Ontario, Canada) according to established procedures used previously in our laboratories [44], [45]. DNA was then genotyped for the SNPs rs11645428, rs6420424 and rs6564851 commercially at the Australian Genome Research Facility (AGRF) using the Sequenom MassARRAY genotyping system.…”

Section: Methodsmentioning

confidence: 99%

The Relationship between BCMO1 Gene Variants and Macular Pigment Optical Density in Persons with and without Age-Related Macular Degeneration

et al. 2014

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BackgroundRecent evidence indicates that gene variants related to carotenoid metabolism play a role in the uptake of macular pigments lutein (L) and zeaxanthin (Z). Moreover, these pigments are proposed to reduce the risk for advanced age-related macular degeneration (AMD). This study provides the initial examination of the relationship between the gene variants related to carotenoid metabolism, macular pigment optical density (MPOD) and their combined expression in healthy humans and patients with AMD.Participants and MethodsForty-four participants were enrolled from a general population and a private practice including 20 healthy participants and 24 patients with advanced (neovascular) AMD. Participants were genotyped for the three single nucleotide polymorphisms (SNPs) upstream from BCMO1, rs11645428, rs6420424 and rs6564851 that have been shown to either up or down regulate beta-carotene conversion efficiency in the plasma. MPOD was determined by heterochromatic flicker photometry.ResultsHealthy participants with the rs11645428 GG genotype, rs6420424 AA genotype and rs6564851 GG genotype all had on average significantly lower MPOD compared to those with the other genotypes (p<0.01 for all three comparisons). When combining BCMO1 genotypes reported to have “high” (rs11645428 AA/rs6420424 GG/rs6564851 TT) and “low” (rs11645428 GG/rs6420424 AA/rs6564851 GG) beta-carotene conversion efficiency, we demonstrate clear differences in MPOD values (p<0.01). In patients with AMD there were no significant differences in MPOD for any of the three BCMO1 gene variants.ConclusionIn healthy participants MPOD levels can be related to high and low beta-carotene conversion BCMO1 genotypes. Such relationships were not found in patients with advanced neovascular AMD, indicative of additional processes influencing carotenoid uptake, possibly related to other AMD susceptibility genes. Our findings indicate that specific BCMO1 SNPs should be determined when assessing the effects of carotenoid supplementation on macular pigment and that their expression may be influenced by retinal disease.

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“…A macular pigment densitometer (Macular Metrics II, LLC, Providence, RI, USA) was used to perform heterochromatic flicker photometry (HFP). The protocol followed the standardized protocol for measuring MPOD by HFP ( 25 ) and as previously used in our laboratory ( 16 , 26 ). All participants were considered naive to the HFP procedure and underwent brief training and practice trials before completing the task.…”

Section: Methodsmentioning

confidence: 99%

The Effect of BCMO1 Gene Variants on Macular Pigment Optical Density in Young Healthy Caucasians

et al. 2014

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Background: Serum lutein (L) and zeaxanthin (Z) positively correlate with macular pigment optical density (MPOD); hence, the latter is a valuable indirect tool for measuring L and Z content in the macula. L and Z have been attributed antioxidant capacity and protection from certain retinal diseases but their uptake within the eye is thought to depend on genetic, age, and environmental factors. In particular, gene variants within beta-carotene monooxygenase (BCMO1) are thought to modulate MPOD in the macula.Objectives: To determine the effect of BCMO1 single nucleotide polymorphisms (SNPs) rs11645428, rs6420424, and rs6564851 on MPOD in a cohort of young healthy participants of Caucasian origin with normal ocular health.Design: In this cohort study, MPOD was assessed in 46 healthy participants (22 male and 24 female) with a mean age of 23.8 ± 4.0 years (range 19–33). The three SNPs, rs11645428, rs6420424, rs6564851 that have established associations with MPOD were determined using MassEXTEND (hME) Sequenom assay. One-way analysis of variance was performed on groups segregated into homozygous and heterozygous BCMO1 genotypes. Correlations between body mass index (BMI), iris color, gender, central retinal thickness (CRT), diet, and MPOD were investigated.Results: Macular pigment optical density neither significantly varied with BCMO1 rs11645428 (F2,41 = 0.70, p = 0.503), rs6420424 (F2,41 = 0.21, p = 0.801) nor rs6464851 homozygous or heterozygous genotypes (F2,41 = 0,13, p = 0.88), in this young healthy cohort. The combination of these three SNPs into triple genotypes based on plasma conversion efficiency did not affect MPOD (F2,41 = 0.07, p = 0.9). There was a significant negative correlation with MPOD and CRT (r = −0.39, p = 0.01) but no significant correlation between BMI, iris color, gender, and MPOD.Conclusion: Our results indicate that macular pigment deposition within the central retina is not dependent on BCMO1 gene variants in young healthy people. We propose that MPOD is saturated in younger persons and/or other gene variant combinations determine its deposition.

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Relationship Among CFH and ARMS2 Genotypes, Macular Pigment Optical Density, and Neuroretinal Function in Persons Without Age-Related Macular Degeneration

Cited by 6 publications

References 72 publications

Quadrant Field Pupillometry Detects Melanopsin Dysfunction in Glaucoma Suspects and Early Glaucoma

Quadrant Field Pupillometry Detects Melanopsin Dysfunction in Glaucoma Suspects and Early Glaucoma

The Relationship between BCMO1 Gene Variants and Macular Pigment Optical Density in Persons with and without Age-Related Macular Degeneration

The Effect of BCMO1 Gene Variants on Macular Pigment Optical Density in Young Healthy Caucasians

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