From: Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
Case no. | Age | Sex | DI, age at diagnosis | DM, age at diagnosis | OA, age at diagnosis | HI, age at diagnosis | Other features, age at diagnosis | UCVA |
---|---|---|---|---|---|---|---|---|
1 | 18 | M | No | Type 1, 9 years | Bilateral, 16 years | Left MF, 17 Years | Abnormal MRI of brain, uroschesis | OD: 0.04 OS: 0.1 |
2 | 14 | M | No | Type 1, 9 years | Bilateral, 11 years | No | Abnormal MRI of brain, uroschesis | OD: 0.2 OS: 0.1 |