Retina gyrate atrophy

Bg (pyridoxine) Cornea (neovascularization) Retina (gyrate atrophy)... 

Gyrate atrophy of the retina 258870 Ornithine aminotransferase <1 100,000 Myopia, night blindness, progressive loss of peripheral vision ... 

A (UsorAex hyperornithinemia of the retina and choroid with gyrate atrophy and progressive degeneration is due to the deficiency of the enzyme omithine-5-aminotransferase (OAT). OAT deficiency is inherited as an autosomal recessive disorder and illustrates the metabolic importance of ornithine, a nonprotein amino acid (Chapter 17). Ornithine participates either as a substrate or a product of five enzymatic reactions. Two biochemical mechanisms have been proposed to explain the pathophysiology of gyrate atrophy of the choroid and the retina. One is that a high ornithine concentration causes reduced formation of... 

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest 81 630-633. 

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. Proc Natl Acad Sci USA 86 197-201. 

O Donnell JJ, Vannas Sulonen K, Shows TB, Cox DR. 1988. Gyrate atrophy of the choroid and retina Assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7. Am J Hum Genet 43 922-928,... 

Takki K, Simell O. 1974. Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. Br J Ophthalmol 58 907-916. 

Vannas-Sulonen K, Sipila I, Vannas A, Simell O, Rapola J. 1985. Gyrate atrophy of the choroid and retina. A five-year follow-up of creatinine supplementation. Ophthalmology 92 1719-1727. 

Glycogen storage diseases Gyrate atrophy of the retina Hartnup disease Heart attack... 

Increases may occur in a disorder called gyrate atrophy of the retina (Sipila et al., 1981), and there are less well-characterized defects involving ornithinemia (see Stanbury et al, 1983). 

Shih V E. (1973) Laboratory Techniques for the Detection of Hereditary Metabolic Disorders CRC, Boca Raton, Florida Sipila I., Simell O., and O Donnell J. ] (1981) Gyrate atrophy of the choroid and retina with hyperornithinemia Characterization of mutant liver L-ornithine 2-oxoacid aminotransferase kinetics / Chn. Invest. 67, 1805-1807... 

Ocular pathology gyrate atrophy of the choroid and retina... 

Gyrate atrophy of choroid and retina without hyperornithinemia (autosomal recessive)... 

Nanto-Salonen, K., M. Komu, N. Lundbom, K. Heinanen, A. Alanen, I. Sipila, and O. Simell, Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia. Neurology, 53 303-307, 1999. 

Because the proposed transfers of redox mediated by the metabolism of P5C can be catalyzed by several enzyme mechanisms, inborn deficiencies of any one of the mechanisms would not necessarily result in a total absence of P5C-mediated redox transfers. In fact, pathophysiologic manifestations may be limited to those tissues in which the deficient mechanism plays a major physiologic role. For example, in gyrate atrophy of the choroid and retina with absent ornithine aminotransferase, the pathology is restricted to ocular tissues. Within the proposed scheme for P5C-mediated redox transfers, this tissue specificity may be due to the absence or relative deficiency of proline oxidase and P5C synthase in ocular tissues (61). The proposed redox transfer mechanisms would then be deficient since there is no source of P5C. We can speculate that the deficiency in the transfer of cytosolic NADPH (Table H) is related to the pathogenesis of the ocular pathology. 

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