June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
The Genetics of Age-Related Maculopathy II (GARM II) study: an interim analysis
Author Affiliations & Notes
  • Van Lam
    Ophthalmology, Jules Stein Eye Institute at UCLA, Los Angeles, CA
  • Maria Carolina Ortube
    Ophthalmology, Jules Stein Eye Institute at UCLA, Los Angeles, CA
  • Yvette Conley
    Health Promotion & Development, University of Pittsburgh School of Nursing, Pittsburgh, PA
  • Daniel Weeks
    Human Genetics & Biostatistics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA
  • Ariadna Martinez
    Ophthalmology, Jules Stein Eye Institute at UCLA, Los Angeles, CA
  • Nelson Aguilar
    Ophthalmology, Jules Stein Eye Institute at UCLA, Los Angeles, CA
  • Victor Andon
    Ophthalmology, Jules Stein Eye Institute at UCLA, Los Angeles, CA
  • Orlando Machuca
    Ophthalmology, Jules Stein Eye Institute at UCLA, Los Angeles, CA
  • Angela Su
    Ophthalmology, Jules Stein Eye Institute at UCLA, Los Angeles, CA
  • Michael Gorin
    Ophthalmology, Jules Stein Eye Institute at UCLA, Los Angeles, CA
  • Footnotes
    Commercial Relationships Van Lam, None; Maria Carolina Ortube, None; Yvette Conley, University of Pittsburgh (P); Daniel Weeks, US Patent 7,695,909 B2 (P), US Patent 8,053,190 (P); Ariadna Martinez, None; Nelson Aguilar, None; Victor Andon, None; Orlando Machuca, None; Angela Su, None; Michael Gorin, University of Pittsburgh (P)
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 231. doi:
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      Van Lam, Maria Carolina Ortube, Yvette Conley, Daniel Weeks, Ariadna Martinez, Nelson Aguilar, Victor Andon, Orlando Machuca, Angela Su, Michael Gorin; The Genetics of Age-Related Maculopathy II (GARM II) study: an interim analysis. Invest. Ophthalmol. Vis. Sci. 2013;54(15):231.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: The goal of the Genetics of Age-Related Maculopathy II (GARM II) study is to determine how a combination of genetic, dietary, health and exposure factors contributes to an individual’s risk of developing age related macular degeneration (AMD) through the use of an innovative web-based interface.

Methods: GARM II (NCT01115387) is a nationwide observational, prospective, 5-year study, comprised of AMD affected individuals (Group 1), individuals (ages 49-65 years old) with at least one parent with AMD (Group 2A), and unaffected partners of Group 2A (Group 2B). Participants use a HIPAA-compliant, confidential website (www.jsei.org/garm) to complete multiple questionnaires. Fundus images and clinical records are sent by the eye care providers’ offices through a HIPAA-compliant FTP transfer portal (Yousendit) or by mail. Saliva samples are submitted for DNA analysis.

Results: A total of 541 subjects (58-Group 1, 464-Group 2A, 19-Group 2B) were enrolled into the study. Within Group 2, the current mean age is 59; there were 28 withdrawals. Primary data is currently available for 383 Group 2 subjects (67% female, 99% Caucasian). 88% of this group had one parent with AMD, 8% had two parents with AMD and 4% report no AMD for either parent. 36% have smoking exposure and 56% are overweight. 48% reported at least 1 visual symptom, and 8% reported 3 or more visual symptoms. 314 Group 2 subjects have had fundus imaging with macular drusen observed in 78 subjects (25%) and 8 cases of AMD.

Conclusions: Despite the convenience of a web-based protocol, this age group is challenged by family/work demands and limited computer literacy that has adversely affected recruitment, questionnaire completion, and fundus imaging. Individuals with a positive AMD family history are more likely to enroll than their partners or spouses. This cohort of middle-aged individuals is predicted to have a 6-12 times higher risk of developing AMD than the general population. Molecular genetic testing is planned to determine the extent to which current risk models may predict the development of AMD. Dietary, comorbidities, and environmental exposures will be a consideration with respect to future risks; we hope to establish if early visual symptoms may be a useful predictor. This group, which is being prospectively followed, provides an invaluable opportunity to test new diagnostic imaging tools for the early detection and monitoring of AMD.

Keywords: 412 age-related macular degeneration • 464 clinical (human) or epidemiologic studies: risk factor assessment • 461 clinical (human) or epidemiologic studies: natural history  
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