Gyrate atrophy of the choroid: two cases.
نویسندگان
چکیده
INTRODUCTION Gyrate atrophy of the choroid (GA) is a rare, inherited choroidal dystrophy that results in progressive deterioration in peripheral and night vision. This is the first documentation of GA in Singapore. CLINICAL PICTURE This report illustrates 2 cases of a sibling pair from a consanguineous union, presenting with the classical clinical features and biochemical abnormality of this condition. TREATMENT AND OUTCOME One patient was treated with pyridoxine replacement and a low protein diet. However, his condition failed to improve. The other patient was left untreated. CONCLUSION Treatment was ineffective for the first patient. As yet, there is no proven treatment of GA.
منابع مشابه
Gyrate Atrophy of the Choroid and Retina: A Case Report
Introduction Gyrate atrophy of the choroid and retina is a metabolic disorder, which is inherited in an autosomal recessive pattern. Although gyrate atrophy is rare, it is concerning as it results in blindness. It is characterized by hyperornithinemia, retinal atrophy, leads to progressive myopia and tunnel vision,...
متن کاملA rare ophthalmologic disorder: Gyrate atrophy with sparse hair
Gyrate atrophy (GA) is a rare, progressive metabolic choroid and retinal degeneration that results from a deficiency of the pyridoxal phosphate-dependent mitochondrial matrix enzyme ornithine aminotransferase. Here, we report the case of a 40-yearold woman who presented with a gradual decline in visual acuity since puberty, along with a history of high myopia and cataract surgery. She was admit...
متن کاملClinical 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...
متن کاملA Case of Gyrate Atrophy of the Choroid and Retina with Hypogenitalism.
GYRATE atrophy of the choroid and retina is a very rare condition whichl was first described by Cutler in 1894. It is said to be one of the abiotrophies and to be related to retinitis pigmentosa. The evidence upon w-hich this is based is that the symptoms of night blindness, contracting visual fields and progression to blindness are common to both conditions. Moreover in gyrate atrophy there is...
متن کاملGyrate atrophy of the choroid and retina associated with hyperornithinaemia.
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Annals of the Academy of Medicine, Singapore
دوره 32 3 شماره
صفحات -
تاریخ انتشار 2003