Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy
نویسندگان
چکیده
منابع مشابه
Gyrate 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...
متن کاملGyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.
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 transami...
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 کاملVitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
Ornithine aminotransferase (OAT) deficiency (MIM: 258870) is a rare congenital metabolic disorder characterized by gyrate atrophy of the choroid and retina. Here, we report a 37-year-old male with gyrate atrophy of the choroid and retina who has been treated for 18 years. At the age of 7 years, the patient consulted an ophthalmologist due to progressive loss of vision. A large atrophied area wa...
متن کاملGyrate 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,...
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ژورنال
عنوان ژورنال: Ophthalmic Genetics
سال: 2018
ISSN: 1381-6810,1744-5094
DOI: 10.1080/13816810.2018.1474370