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Clinical and biochemical heterogeneity in gyrate atrophy.
- Source :
-
American journal of ophthalmology [Am J Ophthalmol] 1980 Feb; Vol. 89 (2), pp. 219-22. - Publication Year :
- 1980
-
Abstract
- Two patients had milder variants of the usual form of gyrate atrophy. Although the appearance of the chorioretinal degeneration was identical, the progression of the clinical signs and symptoms were slower with night blindness, cataracts, and decreased vision occurring at an older age. Additionally, the level of hyperornithinemia, although still increased above normal, was lower than that usually found in such patients (between 448 and 676 microM). Additionally, one of our patients responded to high dosage vitamin B6 with a 27% reduction in plasma ornithine. The difference in the quantitation of the increase in plasma ornithine, the difference in responsiveness to vitamin B6, and the difference in the clinical consequences of this underlying biochemical abnormality, indicated a variant form of gyrate atrophy, suggesting the presence of genetic heterogeneity.
- Subjects :
- Adolescent
Adult
Atrophy
Cataract complications
Child
Female
Genes
Humans
Ornithine-Oxo-Acid Transaminase analysis
Pyridoxine therapeutic use
Retinal Degeneration blood
Retinal Degeneration drug therapy
Uveal Diseases blood
Uveal Diseases drug therapy
Uveal Diseases pathology
Choroid pathology
Ornithine blood
Retinal Degeneration pathology
Subjects
Details
- Language :
- English
- ISSN :
- 0002-9394
- Volume :
- 89
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- American journal of ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 7355975
- Full Text :
- https://doi.org/10.1016/0002-9394(80)90114-2