Protocol Number: 03-EI-0155

Title:

Evaluation of Single Nucleotide Polymorphism (SNP) in Patients with and Subjects without Age-Related Macular Degeneration (AMD)

Number:

03-EI-0155

Summary:

This study will examine whether certain polymorphisms (small gene variances) predispose people to develop age-related macular degeneration (AMD). This eye condition affects people over 50 years of age and can cause permanent loss of central vision. The study will examine and compare the frequency of polymorphisms in patients with AMD to that of individuals without AMD. This information will help identify genetic risk factors for the AMD and may lead to the development of more effective treatments.

Patients 50 years of age and older with advanced AMD and healthy normal volunteers may be eligible for this study. All participants will provide an eye health history and will have 10 milliliters (2 teaspoons) of blood drawn from an arm vein. The DNA in the blood will be isolated and tested for certain genes that other research indicates are important in aging and age-related diseases. The normal and polymorphic gene sequences will be identified and compared in patients with AMD and control subjects to determine if any of the polymorphisms are related to development of AMD.

In addition, control subjects will have a routine eye examination, including dilation of the pupils for examination of the back of the eye.

Sponsoring Institute:

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): Children

Eligibility Criteria:

INCLUSION CRITERIA:

AMD Patients (cases):

1. Diagnosis of advanced AMD defined by geographic atrophy and/or choroidal neovascularization with drusen of any size in at least one eye.

2. Age 50 years or older.

3. If sample previously donated in a different study, the patient has given their permission to use their sample (i.e. marked appropriate selection in the informed consent).

Control Patients (controls):

1. Absence of drusen or no more than 5 drusen less than 63 microns, absence of other diagnostic criteria for AMD.

2. Agrees to undergo study examinations.

EXCLUSION CRITERIA:

1. Presence of retinal disease involving the photoreceptors and/or outer retinal layers other than AMD loss such as high myopia, retinal dystrophies, central serous retinopathy, vein occlusion, diabetic retinopathy and uveitis or similar outer retinal diseases that have been present prior to the age of 50.

2. Opacities of the ocular media, limitations of papillary dilation or other problems sufficient to preclude adequate stereo fundus photography. These conditions include occluded pupils due to synechiae, cataracts, vitreous haze and opacities due to ocular diseases.

Special Instructions:

Currently Not Provided

Keywords:

Oxidative Stress

DNA Repair

Cytokine and Chemokine

Adhesion Molecules

Apolipoprotein E

Single Nucleotide Polymorphism (SNP)

Age-Related Macular Degeneration (AMD)

Recruitment Keyword(s):

Macualar Degeneration

AMD

Healthy Volunteer

HV

Condition(s):

Macular Degeneration

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Eye Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. Tuo J, Smith BC, Bojanowski CM, Meleth AD, Gery I, Csaky KG, Chew EY, Chan CC. FASEB J. 2004 Aug;18(11):1297-9. Epub 2004 Jun 18.

Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. Tuo J, Ning B, Bojanowski CM, Lin ZN, Ross RJ, Reed GF, Shen D, Jiao X, Zhou M, Chew EY, Kadlubar FF, Chan CC. Proc Natl Acad Sci U S A. 2006 Jun 13;103(24):9256-61. Epub 2006 Jun 5.

The HtrA1 Promoter Polymorphism, Smoking, and Age-related Macular Degeneration in Multiple Case-control Samples. Tuo J, Ross RJ, Reed GF, Yan Q, Wang JJ, Bojanowski CM, Chew EY, Feng X, Olsen TW, Ferris FL 3rd, Mitchell P, Chan CC. Ophthalmology. 2008 Nov;115(11):1891-8. Epub 2008 Aug 21.

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