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Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease.

Gorin, Michael B and Weeks, Daniel E and Baron, Robert V and Conley, Yvette P and Ortube, Maria C and Nusinowitz, Steven (2014) Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease. J Clin Med, 3 (4). 1335 - 1356. ISSN 2077-0383

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Abstract

The key to reducing the individual and societal burden of age-related macular degeneration (AMD)-related vision loss, is to be able to initiate therapies that slow or halt the progression at a point that will yield the maximum benefit while minimizing personal risk and cost. There is a critical need to find clinical markers that, when combined with the specificity of genetic testing, will identify individuals at the earliest stages of AMD who would benefit from preventive therapies. These clinical markers are endophenotypes for AMD, present in those who are likely to develop AMD, as well as in those who have clinical evidence of AMD. Clinical characteristics associated with AMD may also be possible endophenotypes if they can be detected before or at the earliest stages of the condition, but we and others have shown that this may not always be valid. Several studies have suggested that dynamic changes in rhodopsin regeneration (dark adaptation kinetics and/or critical flicker fusion frequencies) may be more subtle indicators of AMD-associated early retinal dysfunction. One can test for the relevance of these measures using genetic risk profiles based on known genetic risk variants. These functional measures may improve the sensitivity and specificity of predictive models for AMD and may also serve to delineate clinical subtypes of AMD that may differ with respect to prognosis and treatment.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Gorin, Michael B
Weeks, Daniel Eweeks@pitt.eduWEEKS0000-0001-9410-7228
Baron, Robert Vrvb5@pitt.eduRVB5
Conley, Yvette Pyconley@pitt.eduYCONLEY
Ortube, Maria C
Nusinowitz, Steven
Date: 28 November 2014
Date Type: Publication
Journal or Publication Title: J Clin Med
Volume: 3
Number: 4
Page Range: 1335 - 1356
DOI or Unique Handle: 10.3390/jcm3041335
Schools and Programs: Graduate School of Public Health > Biostatistics
Graduate School of Public Health > Human Genetics
School of Nursing > Nursing
Refereed: Yes
Uncontrolled Keywords: age-related macular degeneration, endophenotype, genetic risk, preclinical diagnostics, predictive modeling, retinal function
ISSN: 2077-0383
Funders: NEI NIH HHS (R01 EY009859)
Date Deposited: 22 May 2015 21:49
Last Modified: 01 Nov 2017 14:06
URI: http://d-scholarship.pitt.edu/id/eprint/24730

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