Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.
نویسندگان
چکیده
Three cases of Japanese patients with gyrate atrophy of the choroid and retina with hyperornithinaemia were studied clinically and biochemically. The types of disease differed in responsiveness to vitamin B6. In-vivo responsiveness to vitamin B6 was correlated with in-vitro data. It is suggested that the in-vitro examination of the influence of pyridoxal phosphate on ornithine ketoacid transaminase activity in cultured fibroblasts may be useful in ascertaining the efficacy of vitamin B6 treatment in gyrate atrophy. In addition the early development of the fundus lesions was observed in one case (case 1), and the ciliary body abnormality and chorioretinal atrophy were noted in another (case 3).
منابع مشابه
Clinical trials of vitamin B6 and proline supplementation for gyrate atrophy of the choroid and retina.
Five patients with gyrate atrophy of the choroid and retina were examined ophthalmologically, especially ophthalmoscopically, to evaluate trials of vitamin B6 (pyridoxine) or supplementary proline. The oral administration of vitamin B6 was tried in two patients. The vitamin did not alter the serum ornithine level and the progression of chorioretinal atrophy in one patient (case 2). Despite a re...
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The inheritance of the autosomal recessive type of gyrate atrophy of the choroid and retina seems well documented (Botermans, I 972), but the aetiology of the disease is still unknown. Animal experiments and some disturbances of lipid, carbohydrate, and protein metabolism connected with chorio-retinal degenerations in man support the possibility of an enzymatic disorder as an aetiological facto...
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Hyperornithinaemia gyrate atrophy (HOGA) is a rare autosomal recessive disorder in which chorioretinal degeneration occurs with cataracts, myopia, and hyperornithinaemia. We report the case of an 18-year-old female who presented with the typical features of HOGA, including posterior subcapsular cataracts and elevated plasma ornithine. She later developed distorted vision in both eyes owing to w...
متن کاملGyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report
BACKGROUND Gyrate atrophy of the retina and choroid is a rare autosomal recessive inherited disease, characterized by progressive chorioretinal atrophy that results in progressive deterioration of peripheral and night vision and leading to blindness. CASE PRESENTATION This report presents a case of a 28-year-old man consulting for a progressive fall of visual acuity with hemeralopia. Eye fund...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 65 7 شماره
صفحات -
تاریخ انتشار 1981