[Gyrate atrophy of choroid and retina, and hyperornithinemia].
Gyrate atrophy of the choroid and retina is a rare degenerative disease, characterized biochemically by a marked increase in blood ornithine levels, due to deficiency of ornithine S-amino transferase. 4 men aged 35, 36, 48 and 62 years are described with different stages of myopia, night blindness and loss of peripheral vision, which progressed to tunnel vision and partial blindness. Onset of the disease was at ages 3, 10 and 15 years, respectively, while in the 4th patient there was delayed expression starting at about age 50. Most had posterior subcapsular cataracts, and the ocular fundus exhibited demarcated circular areas of chorioretinal degeneration. So far the only patients described in Israel have been of Iraqui origin. Our fourth patient originated from Istanbul, and he may represent a hitherto undescribed variant with a much delayed expression of the disease.
Sela
B A
BA
Institute of Chemical Pathology, Sheba Medical Center, Tel Hashomer.
Zlotnik
J
J
Masos
T
T
Yablonski
G
G
Abraham
F
F
D000328:Adult; D002386:Cataract / Q000209:etiology; D002829:Choroid / Q000473:pathology*; D018450:Disease Progression; D015799:Gyrate Atrophy / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000209:etiology; D009755:Night Blindness / Q000209:etiology; D009952:Ornithine / Q000097:blood*; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency; D012160:Retina / Q000473:pathology*; D014786:Vision Disorders / Q000209:etiology; D014794:Visual Fields
D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase