title: Reversal of cystoid macular edema in gyrate atrophy patients.
abstract: This study reports the presentation of two families with gyrate atrophy (GA). The aim of this study was to characterize the potential effect of therapeutic regimens on macular edema.
  
  
  
  Two unrelated patients with GA were studied for the potential effect of low protein diet (≤ 0.8 g/kg/d), and oral administration of pyridoxine (500 mg/day), on serum ornithine levels, best corrected visual acuity (BCVA), slit-lamp, OCT, and auto-fluorescence findings. Blood samples for DNA, mRNA, and exons of the OAT gene were screened for mutations and splicing effect when relevant.
  
  
  
  At presentation, both patients manifested typical ophthalmic features of GA including cystoid macular edema (CME). One patient also exhibited optic nerve head hamartoma. Following treatment ornithine levels have lessened, BCVA improved, and central macular thickness (CMT) markedly decreased in all four studied eyes. The molecular pathologic features included a novel splice site mutation (c.900+1G>A).
  
  
  
  We have identified a novel mutation and two formerly described mutations in patients with GA. Of them, one patient comprised an unusual phenotype including bilateral astrocytic hamartomas. We have recognized for the first time improvement in CME following treatment with low protein intake and pyridoxine supplement. This finding may have significance in the understanding of treatment options for macular edema regardless of underlying etiology.
authors.affiliation: a Ophthalmology Department , Assaf Harofeh Medical Center , Zerifin , Israel.
authors.forename: Dan
authors.initials: D
authors.lastname: Heller
authors.affiliation: b Matlow's Ophthalmogenetic Laboratory, Assaf Harofeh Medical Center , Zerifin , Israel.|c Sackler Faculty of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Chen
authors.initials: C
authors.lastname: Weiner
authors.affiliation: b Matlow's Ophthalmogenetic Laboratory, Assaf Harofeh Medical Center , Zerifin , Israel.
authors.forename: Iris
authors.initials: I
authors.lastname: Nasie
authors.affiliation: c Sackler Faculty of Medicine , Tel Aviv University , Tel Aviv , Israel.|d Metabolic Diseases Unit, Edmond and Lily Safra Children's Hospital , Sheba Medical Center , Tel-Hashomer , Israel.
authors.forename: Yair
authors.initials: Y
authors.lastname: Anikster
authors.affiliation: c Sackler Faculty of Medicine , Tel Aviv University , Tel Aviv , Israel.|d Metabolic Diseases Unit, Edmond and Lily Safra Children's Hospital , Sheba Medical Center , Tel-Hashomer , Israel.
authors.forename: Yuval
authors.initials: Y
authors.lastname: Landau
authors.affiliation: b Matlow's Ophthalmogenetic Laboratory, Assaf Harofeh Medical Center , Zerifin , Israel.
authors.forename: Tal
authors.initials: T
authors.lastname: Koren
authors.affiliation: a Ophthalmology Department , Assaf Harofeh Medical Center , Zerifin , Israel.
authors.forename: Russell
authors.initials: R
authors.lastname: Pokroy
authors.affiliation: a Ophthalmology Department , Assaf Harofeh Medical Center , Zerifin , Israel.|c Sackler Faculty of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Adi
authors.initials: A
authors.lastname: Abulafia
authors.affiliation: a Ophthalmology Department , Assaf Harofeh Medical Center , Zerifin , Israel.|b Matlow's Ophthalmogenetic Laboratory, Assaf Harofeh Medical Center , Zerifin , Israel.|c Sackler Faculty of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Eran
authors.initials: E
authors.lastname: Pras
mesh_terms: D000284:Administration, Oral; D000293:Adolescent; D000328:Adult; D003131:Combined Modality Therapy; D003241:Consanguinity; D004252:DNA Mutational Analysis; D018753:Diet, Protein-Restricted; D005091:Exons / Q000235:genetics; D005260:Female; D015799:Gyrate Atrophy / Q000097:blood / Q000178:diet therapy* / Q000235:genetics; D006801:Humans; D008269:Macular Edema / Q000503:physiopathology*; D008297:Male; D009952:Ornithine / Q000097:blood; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics; D011736:Pyridoxine / Q000008:administration & dosage*; D022821:RNA Splice Sites; D012333:RNA, Messenger / Q000235:genetics; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D014803:Vitamin B Complex / Q000008:administration & dosage*
chemical_list: D022821:RNA Splice Sites; D012333:RNA, Messenger; D014803:Vitamin B Complex; D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase; D011736:Pyridoxine
keywords: Cystoid macular edema; OAT gene; gyrate atrophy