June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Photoreceptor Structure in Patients with Increased Genetic Risk for Age-Related Macular Degeneration
Author Affiliations & Notes
  • Megan Land
    Medical College of Wisconsin, Milwaukee, WI
  • Robert Cooper
    Biomedical Engineering, Marquette University, Milwaukee, WI
  • Elizabeth Berg
    Computer Sciences, University of Wisconsin Madison, Madison, WI
  • Terrie Kitchner
    Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI
  • Jonathon Young
    Ophthalmology, Medical College of Wisconsin, Milwaukee, WI
  • Kimberly Stepien
    Ophthalmology, Medical College of Wisconsin, Milwaukee, WI
  • Thomas Connor
    Ophthalmology, Medical College of Wisconsin, Milwaukee, WI
  • David Page
    Biostatistics & Medical Informatics, University of Wisconsin Madison, Madison, WI
  • Murray Brilliant
    Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI
  • Joseph Carroll
    Ophthalmology, Medical College of Wisconsin, Milwaukee, WI
    Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, WI
  • Footnotes
    Commercial Relationships Megan Land, None; Robert Cooper, None; Elizabeth Berg, None; Terrie Kitchner, None; Jonathon Young, None; Kimberly Stepien, None; Thomas Connor, None; David Page, Medseek (C); Murray Brilliant, None; Joseph Carroll, Imagine Eyes, Inc. (S)
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 6283. doi:
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    • Get Citation

      Megan Land, Robert Cooper, Elizabeth Berg, Terrie Kitchner, Jonathon Young, Kimberly Stepien, Thomas Connor, David Page, Murray Brilliant, Joseph Carroll; Photoreceptor Structure in Patients with Increased Genetic Risk for Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6283.

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

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Abstract

Purpose: Utilize high-resolution imaging to examine retinal anatomy in patients with increased genetic risk for developing AMD.

Methods: Thirty asymptomatic subjects (average age = 61.7 years, range = 51-67) were recruited. Genetic AMD relative risk (RR) scores were developed by comparing 1,021 AMD cases (all ages) from 439 controls (individuals over age 70 with recent comprehensive eye exams that did not note AMD). The final algorithm incorporated 5 of the 24 tested SNPs (rs10737680 and rs1329424 in CFH; rs3793917 in ARMS/HTRA1; rs641153 in C2/CFB; and rs493258 in LIPC) and distinguishes cases from controls with an AUC of 0.67. Patients in the high-risk quartile had a RR above 0.744, while those in the low risk quartile had a RR below 0.492. Fundus photographs were graded using the AREDS scale, except a grade of 0 was used if there was no evidence of AMD. SD-OCT was used to assess the integrity of retinal layers, and adaptive optics scanning light ophthalmoscopy (AOSLO) was used to evaluate the photoreceptor mosaic. Patients assigned a grade of zero were used as controls for comparing cone density measurements. All imaging was done masked to the genetic risk profile.

Results: Of the 30 patients, 17 were in the high-risk quartile, 12 were in the low-risk quartile, and one was in neither the high-risk nor low-risk quartiles. In the high-risk quartile, 10 had a fundus grade of 0, 5 were grade 1, one was grade 2, and one was grade 3. In the low-risk quartile, 9 were grade 0, and 3 were grade 1. In 12 subjects AOSLO imaging revealed photoreceptor changes ranging from variability in reflectivity to decreased density. Three subjects with a grade 1 fundus displayed areas of hyporeflectivity on the edges of drusen, likely due to altered waveguiding. There was no significant correlation between RR and fundus grade (Fisher’s exact test, p=0.45) or presence of cone mosaic abnormality (Fisher’s exact test, p=0.11).

Conclusions: Our data indicate the utility of adaptive optics in understanding early pathology in AMD. At this early stage of the disease, RR did not correlate with AMD-associated fundus changes or disruption of the photoreceptor mosaic on AOSLO. Since our patient population is nearly a decade younger than when AMD is clinically diagnosed, continued monitoring of these patients is needed to better understand the relationship between genetic risk and early anatomical changes.

Keywords: 412 age-related macular degeneration • 550 imaging/image analysis: clinical • 648 photoreceptors  
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