Gyrate Atrophy

Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.

Also Known As:

Gyrate Atrophy of Choroid and Retina; Gyrate Atrophy of the Choroid and Retina; Hyperornithinemia with Gyrate Atrophy of Choroid and Retina; OAT Deficiency; OKT Deficiency; Ornithine Aminotransferase Deficiency; Ornithine Keto Acid Aminotransferase Deficiency; Ornithine Ketoacid Aminotransferase Deficiency; Ornithine-Delta-Aminotransferase Deficiency; Ornithinemia with Gyrate Atrophy; Atrophy, Gyrate; Deficiency, OAT; Deficiency, OKT; Deficiency, Ornithine Aminotransferase; Deficiency, Ornithine-Delta-Aminotransferase; Ornithine Delta Aminotransferase Deficiency

Networked: 246 relevant articles (6 outcomes, 23 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Heart Failure
3.	Gyrate Atrophy
4.	Retinitis Pigmentosa (Pigmentary Retinopathy)
5.	Propionic Acidemia

Experts

1.	Cellini, Barbara: 6 articles (01/2021 - 02/2014)
2.	Montioli, Riccardo: 6 articles (01/2021 - 02/2014)
3.	Elnahry, Ayman G: 4 articles (05/2022 - 10/2018)
4.	Borri Voltattorni, Carla: 4 articles (01/2021 - 01/2017)
5.	Desbats, Maria Andrea: 4 articles (01/2021 - 01/2013)
6.	Salviati, Leonardo: 4 articles (01/2021 - 01/2013)
7.	Ando, Akira: 4 articles (03/2011 - 11/2003)
8.	Ito, Seiji: 4 articles (03/2011 - 11/2003)
9.	Valle, David: 3 articles (06/2022 - 02/2002)
10.	Kaneko, Shiho: 3 articles (03/2011 - 01/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gyrate Atrophy:

1.	OrnithineIBA 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." 01/01/2023 - "In this report, we demonstrate that chorioretinal degeneration appears to stabilize in an adult patient with gyrate atrophy in association with a partial reduction in ornithine levels. " 02/05/2018 - "Blood investigations showed a raised plasma ornithine level at 917 μmol/L (normal range: 32-88 μmol/L) confirming the diagnosis of gyrate atrophy. " 01/01/2018 - "The diagnosis of gyrate atrophy was made on the basis of clinical findings and increased plasma ornithine levels. "
2.	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 02/08/2023 - "Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina." 01/01/2021 - "Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina." 01/01/2019 - "R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features." 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. " 11/01/2021 - "Key Words: Foveoschisis, Gyrate atrophy, Ornithine aminotransferase."
3.	Vitamin B 6IBA 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." 06/12/2007 - "Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report." 04/01/2005 - "Therefore, early diagnosis and treatment with vitamin B(6) may prevent loss of vision in some patients with OAT deficiency." 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."
4.	Retinaldehyde (Retinal)IBA 11/01/2023 - "In two mouse models of OAT deficiency that recapitulates biochemical and retinal changes of GACR, we investigated the efficacy of an intravenously injected serotype 8 adeno-associated (AAV8) vector expressing OAT under the control of a hepatocyte-specific promoter. " 05/23/2023 - "Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype." 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. "
5.	CreatineIBA 06/01/2009 - "Secondary creatine deficiency in ornithine delta-aminotransferase deficiency." 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."
6.	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 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. " 08/01/1981 - "Gyrate atrophy of the choroid and retina is caused by deficient activity of ornithine ketoacid aminotransferase, a pyridoxal phosphate dependent enzyme. " 07/01/2018 - "Purpose: Gyrate atrophy (GA) of the fundus is a rare, progressive metabolic disease secondary to the deficiency of the pyridoxal phosphate-dependent enzyme, ornithine aminotransferase. "
7.	Bevacizumab (Avastin)FDA Link 11/01/2020 - "Intravitreal bevacizumab is safe and effective in the treatment of intraretinal cystic spaces associated with gyrate atrophy. " 11/01/2020 - "Treatment of Intraretinal Cystic Spaces Associated With Gyrate Atrophy of the Choroid and Retina With Intravitreal Bevacizumab." 12/01/2018 - "Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina." 11/01/2020 - "Retrospective chart review of 5 eyes of 3 patients with intraretinal cystic spaces associated with gyrate atrophy and treated with intravitreal bevacizumab injections was performed. " 11/01/2020 - "To evaluate the use of intravitreal bevacizumab injections for the treatment of intraretinal cystic spaces associated with gyrate atrophy of the choroid and retina. "
8.	Insulin (Novolin)FDA Link 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. "
9.	CholesterolIBA 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. "
10.	Arginine (L-Arginine)FDA Link 02/01/2002 - "Natural history study of 2 pairs of siblings with gyrate atrophy treated with an arginine-restricted diet. " 04/01/1981 - "Visual results of a long-term trial of a low-arginine diet in gyrate atrophy of choroid and retina." 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 - "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. "

Therapies and Procedures

1.	Therapeutics 04/01/1996 - "This study represents a first step in the development of intraocular gene replacement therapy for the treatment of gyrate atrophy. " 05/01/2001 - "To assess the course of change of visual function outcome variables in 5 patients with gyrate atrophy before a gene replacement therapy clinical trial. " 02/18/2021 - "To report a case of genetically confirmed gyrate atrophy (GA) of choroid and retina, who showed partial regression of foveoschisis following vitamin B6 supplementary therapy. " 02/18/2021 - "Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl." 01/01/2015 - "Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy."
2.	Protein-Restricted Diet (Diet, Protein Restricted) 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." 04/24/1982 - "Treatment of hyperornithinaemia and gyrate atrophy of choroid and retina with low-protein 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."
3.	Transplantation 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. "
4.	Intraocular Lenses (Intraocular Lens) 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. "
5.	Injections 11/01/2020 - "Retrospective chart review of 5 eyes of 3 patients with intraretinal cystic spaces associated with gyrate atrophy and treated with intravitreal bevacizumab injections was performed. " 11/01/2020 - "To evaluate the use of intravitreal bevacizumab injections for the treatment of intraretinal cystic spaces associated with gyrate atrophy of the choroid and retina. " 12/01/2018 - "Repeated intravitreal bevacizumab injections can result in anatomical and functional improvement of intraretinal cystic spaces in patients with gyrate atrophy of the choroid and retina."