Clinical Trial: Gyrate Atrophy of the Choroid and Retina
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: The Diagnosis, Pathogenesis and Treatment of Gyrate Atrophy of the Choroid and Retina
Brief Summary:
Gyrate atrophy is a rare hereditary disease of the eye's retina (the layer of light-sensitive tissue that lines the inside of the eyeball) and choroid (a vascular layer of tissue behind the retina). Degeneration of these structures causes near-sightedness, cataracts and progressive loss of vision. This study will examine eye function and chemical and molecular abnormalities in patients with gyrate atrophy to try to better understand, diagnose, and treat the condition. Patients with other degenerative diseases of the choroid and retina, such as retinitis pigmentosa, choroideremia, and others, will also be studied for comparison. Family members of patients will be studied, when possible, to try to identify the genetic basis of the disease and gain information that will aid in genetic counseling.
Study participants will undergo a physical examination and eye examination, including tests of color vision, field of vision, and ability to see in the dark. An electroretinogram and electrooculogram will measure visual cell function. Photographs of the retina will be taken. Blood will be drawn for biochemical study and gene research. Family members who agree to participate in the study will undergo the same eye tests and will also have blood drawn for genetic studies. Patients with gyrate atrophy will also be asked to undergo a small skin biopsy for biochemical and genetic study. They will provide a family history in order to draw a family tree showing how the disease is distributed among family members.
Patients with gyrate atrophy may also participate in studies of the effect of vitamin B6 and diet on blood levels of the amino acid ornithine, which is elevated in patients with gyrate atrophy. Participants will take 500 mg of vitamin B6 by mouth every day for 3 to 6 months. If this study confirms a reduction of ornithine levels, th
Detailed Summary:
Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive chorioretinal degeneration characterized by myopia, cataract, varying degrees of night blindness, and progressive constriction of visual fields associated with chorioretinal atrophy resulting in blindness. The objectives of this protocol are threefold:
- Document the natural history of gyrate atrophy.
- Relate the clinical course to the gene defect to explore the genetic heterogeneity inherent in this disease.
- Assess the clinical course and laboratory findings of the effects of an arginine-deficient diet. The study population is patients with elevated plasma ornithine and absence of ornithine-delta-aminotransferase activity. This is a natural history study, with a nested intervention study, non-randomized, with the outcome parameters being psychophysical, electrophysiological and ophthalmoscopic examination.
Sponsor: National Eye Institute (NEI)
Current Primary Outcome:
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: November 3, 1999
Date Started: January 1978
Date Completion: March 2004
Last Updated: March 3, 2008
Last Verified: March 2004
