Table 1.
Clinical features of all patients with WFS included in this study
| Family | 1 | 2 | 3 | 4 | 5 | 6 | 7 | ||
| Patient | S01 | S02 | S07 | S03 | S04 | S06 | S09 | S10 | S11 |
| Sex | F | M | F | M | F | F | F | M | F |
| Consanguinity | No | No | No | No | No | No | No | No | No |
| Current age (years) | 21.4 | 17.4 | 17.5 | 21.9 | 26.0 | 25.2 | 17.4 | 31 RIP | 32.7 |
| BMI (kg/m2) | 24.9 | 22.5 | 26.8 | 19.3 | 21.2 | 34.8 | 21.8 | N/A | N/A |
| DM (years) | 6 | 1.5 | 9 | 6 | 5 | 10 | 6 | 3 | 4 |
| Mean HbA1c (mmol/mol) | 65.2 | 79.0 | 64.2 | 55.2 | 64.7 | 79.8 | 61.3 | 75.0 | 62.0 |
| OA: age at diagnosis (years) | 14 | 8 | 4 | 8 | 5 | 9 | 5 | 5 | 4 |
| Current logMAR* value | 0.4 | 0.2 | 0.3 | 1.6 | 2.2 | 1.8 | 1.7 | 2.9 (no light perception) |
2.9 (no light perception) |
| Hearing loss onset (years) | 14 | 1.5 | 0 | 8 | 4 | 12 | 13 | 9 | 6 |
| Pure tone average (dB); (qualitative description of audiogram) | 15 (0–10 dB from 0.25 to 2 kHz, 30 dB at 4 Hz, 55 dB at 8 kHz) |
75 (70–80 dB from 0.25 kHz onwards) |
112 (90 dB at 0.25 to 0.5 kHz, 120 dB from 1 kHz onwards) |
65 (40–50 dB at 0.25 kHz, increasing dB from 0.25 kHz onwards, 90–100 dB at 8 kHz |
85 (50 dB at 0.25 kHz, 80 dB from 0.5kHz to 2kHz, 100 dB from 3 kHz onwards) |
10 (0–10 dB from 0.25 to 4 kHz, 55 dB at 8 kHz) |
10 (0–10 dB from 0.25–4 kHz, 35 dB at 8 kHz) |
70 (40 dB at 0.25–0.5 kHz, increasing dB from 0.5 kHz onwards, 100 dB at 8 kHz) |
57 (40 dB at 0.25–1 kHz, 70 dB at 2 kHz, 80 dB from 4 kHz onwards) |
| DI onset (years) | 13 | None | None | None | 16 | None | 15 | 3 | 6 |
| Urinary dysfunction onset (years) | 15 | 14 | No | 16 | 16 | 16 | 7 | Neuropathic bladder | Neuropathic bladder |
| Degree of urinary dysfunction | Staccato void, megacystis (improving) | Staccato void, megacystis (improving) | None | Neurogenic bladder | Neurogenic bladder | Neurogenic bladder, recurrent UTIs | Neurogenic bladder | Self-catheterising | Self-catheterising |
| Neurological/psychiatric symptoms | Depression, night terrors | Headaches | None | Mild bilateral hand tremor, social anxiety and vivid dreams | Previous auditory/visual hallucinations, migraine-type headaches, sleep disturbance and anxiety | Bulbar palsy, depression, marked balance problem, previous self-harm, obsessive-compulsive features and headaches | Bulbar palsy, dyssynergic defecation and mood swings | Depression, restless legs, myoclonic jerks, ataxia and chronic fatigue syndrome | Chronic fatigue syndrome |
| MRI brain report | Atrophy of optic nerve, chiasm and tracts | Atrophy of optic nerve, chiasm and tracts | MRI not undertaken | Atrophy of optic nerve, chiasm and tracts | Atrophy of optic nerve, chiasm and tracts | Atrophy of optic nerve, chiasm and tracts | Atrophy of optic nerve, chiasm and tracts | MRI not undertaken | Atrophy of optic nerve, chiasm and tracts |
| Other | Underactive thyroid | Learning impairment | None | None | Gastritis, nausea and primary ovarian failure | Oropharyngeal dysphasia | Sleep apnoea, tracheostomy (grade 1 laryngeal cleft), previous nasogastric (NG) tube fed | N/A | Depression wheelchair-bound due to falls. On antireflux medicine |
*LogMAR value (visual acuity logarithm of the minimum angle of resolution) is the magnification requirement; the higher the logMAR value, the worse the visual acuity (<1.0: mild to moderate visual impairment, 1.0–1.3: sight impaired (partial sighted), >1.3: severely sight impaired (blind).40–42
BMI, body mass index; DM, diabetes mellitus; HbA1c, glycated haemoglobin; OA, optic atrophy; WFS, Wolfram syndrome.