Family Myopia Study

NCT00341549 | Completed

• 2 other identifiers: 99990219102-HG-N191
• Study Type: observational
• Target: 7,477
• Locations: 1 country
• Sites: 1

Brief Summary

This study will try to identify the gene or genes responsible for myopia (nearsightedness) and to examine the relationship between myopia and near work. Myopia is the most common eye disorder in the world, affecting one in four Americans. Several studies indicate that myopia is inherited. The condition tends to cluster in families, so that studying families with this condition may facilitate finding the exact cause. Caucasian Americans and African Americans with myopia who are in general good health may be eligible for this study. People with a family history of myopia through several generations along one parent s side only, and in which more than one sibling has myopia are preferred. People who have severe diseases that involve myopia, such as Stickler s or Marfan syndromes, retinitis pigmentosa or diabetic retinopathy may not participate. Participants will undergo the following tests and procedures:

• Eye examination, including refraction
• Blood draw for genetic studies and possibly establishment of cell lines (collection of cells grown in the laboratory from an original tissue specimen) for future research
• Myopia Family Study Questionnaire and personal medical information questionnaire to provide information about other medical conditions that may influence the development of myopia; the vision status of their spouse and children, parents and siblings, and spouse s parents and siblings
• Risk Factor Questionnaire (for Jewish Orthodox community only) to assess the amount of near work activity done in childhood

Conditions

Myopia

Keywords

Genetics; Mapping; Gene; Myopia; Nearsightedness

Outcome Measures

Primary Outcomes (1)

• Myopia Genes

  The overall objective for this project is to query the entire human genome to identify the genes responsible for myopia and for variation in ocular refraction.

  Ongoing

Study Arms (1)

Myopia

The subject population will be adult individuals and their children, in good health with the exception of myopia.

Eligibility Criteria

• Age: 1 Month+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The subject population will be adult individuals and their children, in good health with the exception of myopia.@@@@@@

You may qualify if:

• The subject population will be adult individuals and their children, in good health with the exception of myopia.
• Subjects will be chosen based upon vision history of their extended family.
• Preferred subjects will be those who have a family in which myopia passes through several generations along one parent s side only, in which more than one sibling is affected with myopia, but in which no more than one parent is affected.
• Specific eligibility requirements for the index case include:
• Cycloplegic refraction of 1.00 spherical equivalent (as long as there was 1.00D or higher in each meridian if astigmatism is present) or worse in both eyes in those under age 50 to be considered myopic;
• Manifest refraction of 1.00 spherical equivalent (as long as there was 1.00D or higher in each meridian if astigmatism is present) or worse in both eyes in those over age 50 to be considered myopic;
• No history of systemic or ocular disease which might predispose to myopia including premature birth;
• The index case should have a familial history of myopia in either their parents or children or other close relatives (suggesting a genetic influence);
• In the event that the parents of the index case have myopia, it is preferred that only one parent be affected with myopia.
• Some of these bilineal families may be collected if necessary to achieve the desired sample size, but unilateral families are preferred.

You may not qualify if:

• Excluded from the University of Pennsylvania study are those who have severe diseases that involve myopia, such as Stickler s or Marfan syndromes, ocular disease such as Retinitis Pigmentosa, and those with diseases that may secondarily cause myopia such as diabetes or retinopathy of prematurity. Records of eye examinations obtained prior to the onset of systemic or ocular disease will be accepted.
• Individuals who complete the Risk Factor Questionnaire and who state that they were born more than a month prematurely will not be included in the study.
• Individuals who are myopic in one eye and unaffected in the other (ulnilateral myopes) will not be included in the study.
• Individuals who do not sign the Consent Form will be excluded, and families for whom all necessary members do not sign the Consent Form will be excluded.
• No fetuses, pregnant women, prisoners or other institutionalized individuals will be enrolled.
• Generally, myopia itself is not associated with mental impairment, although careful consideration will be given to determining the cognitive understanding of any such potentially impaired person appropriate for enrollment in order to assure that protection of human rights is optimized.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI), 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet. 1998 Jul;63(1):109-19. doi: 10.1086/301907.

  PMID: 9634508 BACKGROUND

• Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA. A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet. 1998 Nov;63(5):1419-24. doi: 10.1086/302111.

  PMID: 9792869 BACKGROUND

• Sperduto RD, Seigel D, Roberts J, Rowland M. Prevalence of myopia in the United States. Arch Ophthalmol. 1983 Mar;101(3):405-7. doi: 10.1001/archopht.1983.01040010405011.

  PMID: 6830491 BACKGROUND

MeSH Terms

Conditions

Myopia

Condition Hierarchy (Ancestors)

Refractive Errors; Eye Diseases

Study Officials

• Joan Bailey-Wilson, Ph.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 19, 2006
• First Posted: June 21, 2006
• Study Start: April 29, 2002
• Primary Completion: March 12, 2020
• Study Completion: March 12, 2020
• Last Updated: March 13, 2020

Record last verified: 2020-03

Locations

US (1)