Table 1.
Clinical characteristics of the patients (N = 18).
| Characteristic | Homozygous (5/18) | Heterozygous (13/18) |
|---|---|---|
| Age | Mean: 20.4; range: 8–45 | Mean: 19.1; range: 6–35 |
| Consanguinity | 5/5 (100%) | 13/13 (100%) |
| Family history | 2/5 (40%) | 7/13 (53.8%) |
| DM | 3/5 (60%) | 3/13 (23%) |
| Age of onset of DM | Mean: 16.3; range: 4–30 | Mean: 4.6; range: 2–6 |
| Optic atrophy | 5/5 (100%) | 13/13 (100%) |
| Age of onset of loss of vision | Mean: 13.4; range: 6–35 | Mean: 7.1; range: 5–9 |
| DI | 1/5 (20%) | 3/13 (23%) |
| Age of onset of DI | Mean: 25 | Mean: 17; range: 10–30 |
| Hearing loss | 2/5 (40%) | 2/13 (15.3%) |
| Neurological symptoms | 0/5 (0%) | 5/13 (38.4%) Ataxia (3/5), tremor (1/5), plantar dorsiflexionweakness (1/5), mental delay (1/5) |
| Brain MRI | Thinning of the optic nerve 3/5 (60%) | Thinning of the optic nerve 7/13 (53.8%) Cerebellar atrophy 1/13 (7.69%) |
Note. DM = diabetes mellitus; DI = diabetes insipidus; MRI = magnetic resonance imaging.