Gyrate atrophy-like phenotype with normal plasma ornithine.
OBJECTIVE
To describe the clinical characteristics of a chorioretinal disease with a gyrate atrophy-like phenotype and normal plasma ornithine.


METHODS
One family with three men who had progressive chorioretinal disease and three additional patients with simplex cases were examined clinically and with standard electroretinography, electrooculography, and dark adaptometry.


RESULTS
In the family, a 70-year-old man and his two sons (39 and 41 years of age) were affected. On ophthalmoscopy, sharply demarcated peripheral patches of retinal pigment epithelium and choroidal atrophy were seen to progress to the posterior pole in the father's eye. In three unrelated men (62, 70, and 80 years of age), chorioretinal atrophy was present in the mid- and far periphery. Visual acuity was normal in the two youngest of all six patients; however, electroretinogram and electrooculogram waves were reduced. Advanced visual field defects and visual acuity loss occurred in the four older patients. Electroretinogram and electrooculogram were reduced, and the dark adaptation thresholds were elevated. In all patients, serum ornithine levels were normal. Ornithine-delta-aminotransferase activity in cultured skin fibroblasts and the apparent Michaelis constant (Km) for ornithine and alpha-ketoglutarate were within the normal range in all patients.


CONCLUSIONS
A gyrate atrophy-like phenotype can result from causes other than deficient ornithine-delta-aminotransferase. Its occurrence in three male members in two generations in one family suggests an autosomal dominant inheritance in at least some such patients.
Kellner
U
U
Freie Universität Berlin, Universitätsklinikum Benjamin Franklin, Augenklinik und Poliklinik, Germany.
Weleber
R G
RG
Kennaway
N G
NG
Fishman
G A
GA
Foerster
M H
MH
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001284:Atrophy; D002829:Choroid / Q000473:pathology / Q000503:physiopathology; D003623:Dark Adaptation; D004585:Electrooculography; D004596:Electroretinography; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D015799:Gyrate Atrophy / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009952:Ornithine / Q000097:blood*; D010375:Pedigree; D010641:Phenotype; D012160:Retina / Q000473:pathology / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology
D009952:Ornithine