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Hyperornithinemia and Gyrate Atrophy of the Choroid and Retina
Ophthalmology, 1978The diagnosis of hyperornithinemia and gyrate atrophy (HOGA) depends upon the presence of five characteristic features: (1) typical chorioretinal lesions, (2) high myopia, (3) cataracts, (4) hyperornithinemia, and (5) autosomal recessive inheritance. We have seen three patients and described four new findings: (1) decreased whole blood glutamic acid ...
J C, McCulloch +3 more
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Clinical and Biochemical Heterogeneity in Gyrate Atrophy
American Journal of Ophthalmology, 1980Two 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.
M I, Kaiser-Kupfer, D, Valle, A J, Bron
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Gyrate Atrophy of the Choroid and Retina with Hyperornithinemia
American Journal of Ophthalmology, 1975A case of gyrate atrophy of the choroid and retina and hyperornithinemia in a 28-year-old man was subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acids was unique to this patient, being absent in parents and siblings.
C, McCulloch, E B, Marliss
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Optometry and Vision Science, 1979
Abstract Central gyrate atrophy is a rare ocular finding with a unique pathogenesis and fundus appearance. This entity results in total atrophy of the large and small vessels of the choroid and concomitant changes in the outer layers of the retina.
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Abstract Central gyrate atrophy is a rare ocular finding with a unique pathogenesis and fundus appearance. This entity results in total atrophy of the large and small vessels of the choroid and concomitant changes in the outer layers of the retina.
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Gyrate atrophy of the choroid and retina
International Ophthalmology, 1981Gyrate atrophy of the choroid and retina is caused by deficient activity of ornithine ketoacid aminotransferase, a pyridoxal phosphate dependent enzyme. Besides the typical eye findings, abnormalities have been found on muscle biopsy, electro-encephalography, electromyography and electrocardiography, establishing this as a generalized disorder ...
R G, Weleber, N G, Kennaway, N R, Buist
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Ocular Clinicopathologic Study of Gyrate Atrophy
American Journal of Ophthalmology, 1991We performed a histopathologic study of whole globes obtained post mortem from a patient with well-documented, vitamin B6-responsive gyrate atrophy. The retina in the posterior pole had focal areas of photoreceptor atrophy with adjacent retinal pigment epithelial hyperplasia.
D J, Wilson, R G, Weleber, W R, Green
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Ultrawide-field OCT in Gyrate Atrophy
Ophthalmology Retina, 2022Inderjeet, Kaur +2 more
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Diagnosis and Treatment of Gyrate Atrophy
International Ophthalmology Clinics, 1993M J, Potter, E L, Berson
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Chorioretinopathies: Choroideraemia and Gyrate Atrophy
2014Choroideraemia is an X-linked progressive degeneration of the retina and the choroid [1–3]. The primary site of the disease is the retinal pigment epithelium (RPE), outer retina and choroid [2, 4]. The specific features of affected males and female carriers were first described by C and RJP McCullough, in their 1948 report on a large Canadian family in
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