Protocol Number: 06-EI-0058

Title:

Clinical and Molecular Studies in Families with Myopia and Related Diseases

Number:

06-EI-0058

Summary:

This study will examine the inheritance of myopia in families of various nationalities and ethnic backgrounds to identify gene changes that cause myopia or similar diseases and to better understand these conditions. In patients with myopia, the eye does not focus light accurately on the retina (tissue that lines the back of the eye), so that objects at a distance appear blurry. Myopia may occur alone, with other vision problems such as retinal dislocations, cataract or glaucoma, or with other problems such as joint or skin problems.

People with myopia (usually those from families with several affected members) and control subjects with normal vision may be eligible for this study.

Each participant undergoes the following procedures:

-Blood draw for genetic testing related to the disorders under study

-Medical and family history, including drawing a family tree to explore vision problems in the family

-Complete eye examination, including refraction (pupil dilation) and visual acuity testing, photographs of the retina and possibly lens, and specialized tests to measure field of vision, color vision and ability to see in the dark

Sponsoring Institute:

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility Criteria:

iNCLUSION CRITERIA:

1. Individuals or family members of individuals with

myopia, either congenital, childhood, or older.

2. Adults must be capable of providing their own consent.

3. All subjects must be able to cooperate with study examination and phlebotomy.

4. Older than 4 years of age.

EXCLUSION CRITERIA:

1. Diseases, infections, or trauma that mimic primary myopia.

2. Children requiring sedation for study procedures.

Special Instructions:

Currently Not Provided

Keywords:

Nearsightedness

Molecular Genetics

Positional Cloning

Refraction

Linkage

Myopia

High Myopia

Recruitment Keyword(s):

Myopia

Nearsightedness

Condition(s):

Myopia

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):

Mutti DO, Mitchell GL, Moeschberger ML, Jones LA, Zadnik K. Parental myopia, near work, school achievement, and children's refractive error. Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3633-40.

Teikari JM, O'Donnell J, Kaprio J, Koskenvuo M. Impact of heredity in myopia. Hum Hered. 1991;41(3):151-6.

Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. Mol Vis. 2004 Nov 17;10:890-900.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

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