Literature DB >> 11831916

Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.

Muriel I Kaiser-Kupfer1, Rafael C Caruso, David Valle.   

Abstract

OBJECTIVE: To determine whether the long-term reduction of plasma ornithine levels by way of an arginine-restricted diet in patients with gyrate atrophy will slow the progression of this chorioretinal degeneration.
DESIGN: Natural history study of 2 pairs of siblings with gyrate atrophy treated with an arginine-restricted diet. MAIN OUTCOME MEASURES: Fundus photography and electrophysical and psychophysical retinal function tests.
RESULTS: After 16 to 17 years of receiving an arginine-restricted diet, the younger sibling in each pair, who was prescribed the diet at an earlier age than the older sibling, demonstrated a slower progression of lesions compared with the older sibling.
CONCLUSIONS: If started at an early age, long-term substantial reduction of plasma ornithine levels may appreciably slow the progression of the chorioretinal lesions and, to a lesser extent, the progressive loss of retinal function in patients with gyrate atrophy.

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Year:  2002        PMID: 11831916     DOI: 10.1001/archopht.120.2.146

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  7 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.

Authors:  M Fleury; R Barbier; F Ziegler; M Mohr; O Caron; H Dollfus; C Tranchant; J M Warter
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-11-06       Impact factor: 10.154

3.  Progression of gyrate atrophy measured with ultra-wide-field imaging.

Authors:  Guillermo Salcedo-Villanueva; Miguel Paciuc-Beja; Cristina Villanueva-Mendoza; Mariana Harasawa; Jesse M Smith; Raul Velez-Montoya; Jeffrey L Olson; Scott C Oliver; Naresh Mandava; Hugo Quiroz-Mercado
Journal:  Int Ophthalmol       Date:  2015-05-26       Impact factor: 2.031

4.  OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.

Authors:  Satoshi Katagiri; Tamaki Gekka; Takaaki Hayashi; Hiroyuki Ida; Toya Ohashi; Yoshikatsu Eto; Hiroshi Tsuneoka
Journal:  Doc Ophthalmol       Date:  2014-01-16       Impact factor: 2.379

5.  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.

Authors:  Agnes B Renner; Andreas Walter; Britta S Fiebig; Herbert Jägle
Journal:  Doc Ophthalmol       Date:  2012-06-07       Impact factor: 2.379

6.  Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up.

Authors:  R Santinelli; C Costagliola; C Tolone; A D'Aloia; A D'Avanzo; F Prisco; L Perrone; E Miraglia del Giudice
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

7.  A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy.

Authors:  Aneta Kaczmarczyk; Mark Baker; Julianna Diddle; Tatiana Yuzyuk; David Valle; Kristin Lindstrom
Journal:  Mol Genet Metab Rep       Date:  2022-03-16
  7 in total

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