卵磷脂和视网膜的陀螺萎缩
INHERITANCE
- Autosomal recessive
HEAD & NECK
Eyes
- Progressive chorioretinal degeneration
- Myopia（onset in first decade）
- Night blindness（onset in first decade）
- Progressive loss of peripheral vision（onset in first decade）
- Blindness（onset in fourth or fifth decade）
- Posterior subcapsular cataracts（onset in second or third decade）
- Myopia（onset in first decade）
- Night blindness（onset in first decade）
- Progressive loss of peripheral vision（onset in first decade）
- Blindness（onset in fourth or fifth decade）
- Posterior subcapsular cataracts（onset in second or third decade）
MUSCLE, SOFT TISSUES
- Mild proximal muscle weakness（<10% of patients）
- Tubular aggregates in type 2 skeletal muscle fibers
- Abnormal EMG
- Tubular aggregates in type 2 skeletal muscle fibers
- Abnormal EMG
LABORATORY ABNORMALITIES
- Elevated plasma ornithine（~10-fold）
- Ornithine-δ-aminotransferase（OAT） deficiency
- Plasma ammonia not elevated
- Elevated urinary ornithine, lysine, arginine
- Decreased plasma lysine, glutamic acid, and glutamine
- Ornithine-δ-aminotransferase（OAT） deficiency
- Plasma ammonia not elevated
- Elevated urinary ornithine, lysine, arginine
- Decreased plasma lysine, glutamic acid, and glutamine
MISCELLANEOUS
- Visual symptoms present by late childhood
MOLECULAR BASIS
- Caused by mutation in the ornithine aminotransferase gene（OAT, 258870.0001）
