Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision

Feigl, Beatrix, Cao, Dingcai, Morris, Charles P., & Zele, Andrew J. (2010) Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision. Investigative Ophthalmology and Visual Science, 52(1), pp. 1145-1150.

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PURPOSE: To determine if participants with normal visual acuity, no ophthalmoscopically signs of age-related maculopathy (ARM) in both eyes and who are carriers of the CFH, LOC387715 and HRTA1 high-risk genotypes (“gene-positive”) have impaired rod- and cone-mediated mesopic visual function compared to persons who do not carry the risk genotypes (“gene-negative”).---------- METHODS: Fifty-three Caucasian study participants (mean 55.8 ± 6.1) were genotyped for CFH, LOC387715/ARMS2 and HRTA1 polymorphisms. We genotyped single nucleotide polymorphisms (SNPs) in the CFH (rs380390), LOC387715/ARMS2 (rs10490924) and HTRA1 (rs11200638) genes using Applied Biosystems optimised TaqMan assays. We determined the critical fusion frequency (CFF) mediated by cones alone (Long, Middle and Short wavelength sensitive cones; LMS) and by the combined activities of cones and rods (LMSR). The stimuli were generated using a 4-primary photostimulator that provides independent control of the photoreceptor excitation under mesopic light levels. Visual function was further assessed using standard clinical tests, flicker perimetry and microperimetry.---------- RESULTS: The mesopic CFF mediated by rods and cones (LMSR) was significantly reduced in gene-positive compared to gene-negative participants after correction for age (p=0.03). Cone-mediated CFF (LMS) was not significantly different between gene-positive and -negative participants. There were no significant associations between flicker perimetry and microperimetry and genotype.---------- CONCLUSIONS: This is the first study to relate ARM risk genotypes with mesopic visual function in clinically normal persons. These preliminary results could become of clinical importance as mesopic vision may be used to document sub-clinical retinal changes in persons with risk genotypes and to determine whether those persons progress into manifest disease.

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ID Code: 38471
Item Type: Journal Article
Refereed: Yes
Funders: ARC
Additional URLs:
Keywords: age-related macular degeneration, genetic diseases, visual field, visual function, mesopic vision
DOI: 10.1167/iovs.10-5967
ISSN: 0146-0404
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > OPTOMETRY AND OPHTHALMOLOGY (111300) > Optometry and Ophthalmology not elsewhere classified (111399)
Divisions: Past > Schools > Cell & Molecular Biosciences
Current > QUT Faculties and Divisions > Faculty of Health
Past > QUT Faculties & Divisions > Faculty of Science and Technology
Current > Institutes > Institute of Health and Biomedical Innovation
Current > Schools > School of Optometry & Vision Science
Copyright Owner: Copyright © 2010 by the Association for Research in Vision and Ophthalmology
Deposited On: 12 Nov 2010 01:14
Last Modified: 02 Oct 2014 03:38

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