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

Documenta Ophthalmologica

Volumn 128, Issue 2, 2014, Pages 137-148

  Katagiri, Satoshi ^a   Gekka, Tamaki ^a   Hayashi, Takaaki ^a   Ida, Hiroyuki ^a   Ohashi, Toya ^a   Eto, Yoshikatsu ^b   Tsuneoka, Hiroshi ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Advanced Clinical Research Center Institute of Neurological Disorders   (Japan)

Author keywords

Arginine restricted diet; Gyrate atrophy; Inherited retinal disease; Mutation; OAT

Indexed keywords

ORNITHINE OXOACID AMINOTRANSFERASE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE;

ADOLESCENT; ARTICLE; AUTOFLUORESCENCE IMAGING; BIOMICROSCOPY; CASE REPORT; CHILD; CHORIORETINAL ATROPHY; CLINICAL FEATURE; CONTROLLED STUDY; DIET RESTRICTION; DIET THERAPY; DIETARY COMPLIANCE; DISEASE COURSE; ELECTRORETINOGRAPHY; ENZYME ACTIVITY; FOLLOW UP; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; JAPANESE; MALE; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RETINA DEGENERATION; RETINA GYRATE ATROPHY; SCHOOL CHILD; SLIT LAMP; SUBCAPSULAR CATARACT; VISUAL ACUITY; VISUAL FIELD; VITAMIN SUPPLEMENTATION;

ASIAN CONTINENTAL ANCESTRY GROUP; ATROPHY; CHILD; CHOROID; ELECTRORETINOGRAPHY; FRAMESHIFT MUTATION; GYRATE ATROPHY; HUMANS; INFANT; MALE; ORNITHINE; ORNITHINE-OXO-ACID TRANSAMINASE; PEDIGREE; POLYMERASE CHAIN REACTION; RETINA; SIBLINGS; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 84897108924     PISSN: 00124486     EISSN: 15732622     Source Type: Journal    
DOI: 10.1007/s10633-014-9426-1     Document Type: Article

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