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Home > "C" Clinical Trials Conditions > Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis  Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
For Condition: Retinoschisis
Status: Recruiting
Sponsor(s): National Eye Institute (NEI) ,
Synopsis: This study will explore the causes and eye problems of X-linked juvenile retinoschisis (XLRS), an inherited disease that causes vision loss primarily in young males. The vision loss, which worsens over time, is a result of schisis, or splitting, of the layers of the retina (tissue that lines the back of the eye). A better understanding of why and how XLRS develops might lead to improved treatments. Patients 9 months of age and older with XLRS and females who are suspected carriers of the gene responsible for the disease (such as the mother of the patient) may be eligible for this study. Other family members of patients also may be enrolled. Patients will undergo the following tests and procedures: - Personal and family medical history to review past and current medical conditions and treatments, particularly regarding eye disease, and to construct a family tree. - Eye examination to assess visual acuity (eye chart test) and examine pupils, lens, retina, and eye movements. The pupils will be dilated with drops for this examination. - Photography of the retina to help evaluate the status of the retina. - Specialized eye tests to evaluate color vision, field of vision, and ability to see in the dark. - Electroretinogram (ERG) to examine what happens to the eyes after a flash of bright light. For this test, the patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small silver disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes. The patient looks inside a large empty bowl and then a light flashes, first in the dark and then with a light turned on inside the bowl. The contact lenses sense small electrical signals generated by the retina when the light flashes. - Blood test to examine DNA for genetic study of XLRS. Family members will provide a blood sample for genetic study.
Details: Juvenile retinoschisis is an X-linked disease of retinal development caused by mutations in the XLRS1 gene. A rare condition, affecting 1:5000 to 1:25000 males worldwide, the disease is one of the more common causes of juvenile macular degeneration affecting boys. Affected individuals generally present with vision loss in early grade school. Schisis (splitting) of the nerve fiber layer is often seen clinically as a wheel like cystic formation in the macula in young patients. Peripheral schisis is reported in about 50% of the patients, predominantly in the inferotemporal part of the retina. Visual deterioration often progresses during the first 1 or 2 decades of life. The disease is mainly stable after puberty with slow progression continuing until the fifth or sixth decade. By the age of 40 to 50 years, macular degeneration often occurs, causing additional visual failure. In patients over 50 years of age macular pigmentary changes and retinal pigment epithelial (RPE) atrophy are common. The objectives of this registry are to characterize the anatomical and functional characteristics of retinoschisis and ultimately generate a well-documented genotype-phenotype correlation map. A minimum of 100 males diagnosed with X-linked retinoschisis will undergo clinical examination and have their blood drawn for genotyping. Blood will also be drawn from available and consenting mothers of affected males. Symptomatic female family members will also be eligible for a clinical exam and blood draw for DNA analysis. A maximum of 500 affected males and family members may be enrolled. If clinical findings warrant, followup exams may be performed.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Eligible participants must satisfy the criteria below. Any individual contributing a blood sample to this research study will be considered a study participant. 1. Male diagnosed with X-linked Juvenile Retinoschisis (proband) or a female who is a suspected carrier (i.e.: mother of proband). Other family members of an affected male who wish to contribute may enroll, but will not be actively recruited. EXCLUSION CRITERIA: To be eligible, to participants must not satisfy the criteria below. However, the mother of the proband will not be excluded since only a bllod draw will be required for eligibility. 1. Individuals with significant media opacities or other obstructions precluding a complete fundus examination including photography in all affected eyes. 2. Individuals who are unwilling or unable to contribute a blood sample for genotyping.
Total Enrollment: 500
Location and Contact Information:
National Eye Institute (NEI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 030033; 03-EI-0033
Study Start Date: February 12, 2003
Record last reviewed: September 16, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00055029
Other Retinoschisis Studies:
1. Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
Related Studies:
Other Retinoschisis Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
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