Gyrate Atrophy

04/01/1981 - "These results suggest that reduction of plasma ornithine may be beneficial in gyrate atrophy patients and that the high ornithine concentrations characteristic of this disorder play some role in the pathophysiology."
12/05/1980 - "Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet."
10/01/2013 - "Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report."
01/01/2012 - "Deficiency of ornithine-δ-aminotransferase (OAT) in humans results in gyrate atrophy. "
04/19/2011 - "We isolated iPS cells free of transgene sequences from a patient with gyrate atrophy caused by a point mutation in the gene encoding ornithine-δ-aminotransferase (OAT) and used homologous recombination to correct the genetic defect. "

07/01/1980 - "Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6."
10/01/2013 - "Our report describes the first case of gyrate atrophy in the Korean population diagnosed by OAT gene analysis and treated with vitamin B6 dietary supplementation."
01/01/2007 - "Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report."
01/01/1985 - "Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina."
01/01/1982 - "Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6."

09/01/1981 - "Cells from patients with a rare ocular disease, gyrate atrophy of the choroid and retina, were used for these studies since they lack interfering ornithine aminotransferase activity. "
12/01/2001 - "Gyrate atrophy of the choroid and retina is a chorioretinal degeneration caused by a deficiency of ornithine aminotransferase. "
07/01/1996 - "To identify mutations in ornithine aminotransferase (OAT) in seven Japanese families with gyrate atrophy (GA), an autosomal recessive chorioretinal degeneration of the eye caused by a generalized biochemical deficiency in OAT; mutations in the OAT gene have shown a high degree of molecular heterogeneity. "
07/01/1996 - "Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients."
03/01/1994 - "A generalized biochemical deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive blinding disease of the retina and choroid of the eye. "

12/01/1999 - "Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia."
07/22/1999 - "To analyze in vivo brain creatine (Cr) content in gyrate atrophy of the choroid and retina with hyperornithinemia (GA). "
07/22/1999 - "Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia."
04/09/1981 - "Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina."
01/01/2007 - "Large doses of creatine monohydrate are widely taken, particularly by athletes, as an ergogenic supplement; creatine supplements are also taken by patients suffering from gyrate atrophy, muscular dystrophy, and neurodegenerative diseases. "

08/01/1981 - "Gyrate atrophy of the choroid and retina is caused by deficient activity of ornithine ketoacid aminotransferase, a pyridoxal phosphate dependent enzyme. "
07/01/1981 - "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. "

01/01/2014 - "In light of these new roles of creatine, the dietary supplement's usage has been studied to determine its efficacy in treating congestive heart failure, gyrate atrophy, insulin insensitivity, cancer, and high cholesterol. "

01/01/2014 - "In light of these new roles of creatine, the dietary supplement's usage has been studied to determine its efficacy in treating congestive heart failure, gyrate atrophy, insulin insensitivity, cancer, and high cholesterol. "

07/01/2004 - "A long-term observational study was conducted on 27 patients with gyrate atrophy, 17 of whom elected to comply with the arginine-restricted diet and 10 who were unable to comply. "
02/01/2002 - "Natural history study of 2 pairs of siblings with gyrate atrophy treated with an arginine-restricted diet. "
08/01/2012 - "We report the clinical and genetic data obtained at a 17-year follow-up examination of a patient with gyrate atrophy, without an arginine-restricted diet. "
08/01/2012 - "Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation."
07/01/2004 - "Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy."

12/01/1999 - "Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy."
03/01/1995 - "Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V."
01/01/1985 - "Lack of positive complementation in these crosses suggests that pyridoxine responsive and non-responsive patients with gyrate atrophy represent different allelic mutations of the same genetic locus coding for OKT."
01/01/1985 - "Fibroblasts from four pyridoxine responsive and three non-responsive patients with gyrate atrophy of the choroid and retina have been examined. "
12/01/1988 - "Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina."

01/01/2014 - "We then used the patient's typical retinal findings of gyrate atrophy to demonstrate the potential use of ultrawide-field fundus photography and angiography in diagnosis and monitoring response in future treatment. "
03/01/2012 - "Retinal structure, function, and molecular pathologic features in gyrate atrophy."
08/01/2011 - "We then applied this method to hiPSCs derived from a patient with gyrate atrophy, a retinal degenerative disease affecting the RPE. "
03/01/1995 - "To investigate the mechanism and sequence of formation of ring-shaped mitochondria in retinal pigment epithelial cells of a chick model of gyrate atrophy. "
09/01/1985 - "It may be assumed that in this case of gyrate atrophy the remaining retinal areas suffered little damage as far as qualitative parameters are concerned. "

01/01/2004 - "This study suggests that, in the long-term treatment of gyrate atrophy, the efficacy in slowing the progression of chorioretinal changes and the palatability of a completely natural low-protein diet make this treatment a potentially viable alternative in patients refusing the semisynthetic diet."
01/01/2004 - "Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up."
01/01/2005 - "Early clinical and biochemical diagnosis of gyrate atrophy of the choroid and retina in children is very important, because low protein diet with elimination of arginine can reduce the progression of this severe disease."

01/01/2002 - "The trial will involve the transplantation of a small patch of autologous keratinocytes, transduced ex vivo, onto the thighs of patients with gyrate atrophy. "

03/01/2012 - "This report may imply that patients with gyrate atrophy are at risk for spontaneous dislocation of intraocular lenses."
03/01/2012 - "Bilateral spontaneous dislocation of posterior chamber intraocular lens in a patient with gyrate atrophy."
07/01/2004 - "Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy."
03/01/2012 - "We report a patient with gyrate atrophy, a rare metabolic disease, who had bilateral late spontaneous posterior dislocation of in-the-bag posterior chamber intraocular lens (PCIOL). "
07/01/2004 - "A pseudophakic patient with gyrate atrophy of the choroid and retina presented with bilateral intraocular lens (IOL) dislocation with the capsular bag several years after uneventful cataract surgery. "

02/01/1983 - "We report here the new histological findings and ultrastructural changes in 3 iridectomy specimens from 2 Finnish patients with gyrate atrophy. "
02/01/1983 - "Pathology of iridectomy specimens in gyrate atrophy of the retina and choroid."

01/01/2012 - "Retinal detachment is a rare complication of gyrate atrophy and can be managed with pars plana vitrectomy and silicone oil. "