A case of gyrate chorioretinal atrophy with OAT gene mutation

Japanese Journal of Clinical Ophthalmology

Volumn 60, Issue 9, 2006, Pages 1691-1695

  Kondo, Yoko ^a,b,c   Yamamoto, Hiroyuki ^a   Imai, Hisanori ^d   Nakanishi, Yoriko ^d   Azumi, Atsushi ^d   Tsukahara, Yasutomo ^d   Negi, Akira ^d  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Akashi Municipal Hospital   (Japan)

^c Akashi Municipal Hospital   (Japan)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE; PYRIDOXINE;

ABNORMALLY LOW SUBSTRATE CONCENTRATION IN BLOOD; ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHORIORETINAL ATROPHY; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; NIGHT BLINDNESS; OPHTHALMOSCOPY; POLYMERASE CHAIN REACTION; PROGNOSIS; RETINA DISEASE;

EID: 33749456510     PISSN: 03705579     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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2. Simell O, Takki K: Raised plasma-ornithine and gyrate atrophy of choroid and retina. Lancet 1: 1031-1033, 1973
3. 6. Br J Ophthalmol 65: 478-483, 1981
4. Weleber RG, Kennaway NG, Buist NR: Gyrate atrophy of the choroid and retina. Approaches to therapy. Int Ophthalmol 4: 23-32, 1981
5. Kaiser-Kupfer MI, Caruso RC, Valle D: Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration. Arch Ophthalmol 109: 1539-1548, 1991
6. Kaiser-Kupfer MI, Caruso RC, Valle D et al: Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy. Arch Ophthalmol 122: 982-984, 2004
7. Mashima Y, Shiono T, Tamai M et al: Heterogeneity and uniqueness of ornithine aminotransferase mutation found in Japanese gyrate atrophy patients. Curr Eye Res 15: 792-796, 1996