Abstract

Macular degeneration is the leading cause of legal blindness in patients over the age of 55 in developed countries. In one study, nearly 28% of patients over 75 had some degree of macular degeneration. Other studies have suggested that a significant proportion of macular degeneration is heritable. This makes it possible to use a molecular genetic approach to identify genes that cause macular degeneration. Understanding this common disease at the molecular level has the potential to markedly improve the ability to diagnose and treat it in the future. The broad goal of the work proposed in this grant is to identify specific genes that cause inherited forms of macular disease including the common late-onset form of macular degeneration.
The specific aims are to: 1) isolate and characterize the gene that causes Best's disease and refine the chromosomal location of a condition known as Dominant Macular Dystrophy with Flecks; 2) map the disease-causing genes in additional families with early and late-onset (age related) macular diseases; 3) investigate the potential allelic relationship between late-onset macular degeneration and earlier-onset dystrophies; 4) test a panel of """"""""high priority"""""""" candidate genes for evidence of involvement in macular disease; and 5) explore the possibility that triplet repeats play a role in macular degeneration.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
5R01EY010539-05
Application #
2711105
Study Section
Visual Sciences C Study Section (VISC)
Project Start
1994-06-01
Project End
2000-05-31
Budget Start
1998-06-01
Budget End
2000-05-31
Support Year
5
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
University of Iowa
Department
Ophthalmology
Type
Schools of Medicine
DUNS #
041294109
City
Iowa City
State
IA
Country
United States
Zip Code
52242

  Publications

Drack, Arlene V; Lambert, Scott R; Stone, Edwin M (2010) From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology. Am J Ophthalmol 149:10-17
Ghodasra, Devon H; Nallasamy, Sudha; Binenbaum, Gil (2009) Congenital trigemino-abducens synkinesis in a neonate. J AAPOS 13:417-8
Drack, Arlene V; Johnston, Rebecca; Stone, Edwin M (2009) Which Leber congenital amaurosis patients are eligible for gene therapy trials? J AAPOS 13:463-5
Thompson, Stewart; Foster, Russell G; Stone, Edwin M et al. (2008) Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light. Eur J Neurosci 27:1973-9
Forbes, Brian J; Katowitz, William R; Binenbaum, Gil (2008) Pediatric canalicular tear repairs--revisiting the pigtail probe. J AAPOS 12:518-20
Kang Derwent, Jennifer J; Derlacki, Deborah J; Hetling, John R et al. (2004) Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation. Invest Ophthalmol Vis Sci 45:2447-56
Oh, Kean T; Weleber, Richard G; Oh, Dawn M et al. (2004) Clinical phenotype as a prognostic factor in Stargardt disease. Retina 24:254-62
Oh, Kean T; Weleber, Richard G; Stone, Edwin M et al. (2004) Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. Retina 24:920-8
Kuehn, M H; Stone, E M; Hageman, G S (2001) Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders. Invest Ophthalmol Vis Sci 42:3123-9
Donoso, L A; Frost, A T; Stone, E M et al. (2001) Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. Arch Ophthalmol 119:564-70

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