Table 3 of
Piñeiro-Gallego, Mol Vis 2012; 18:1794-1802.
Table 3 of
Piñeiro-Gallego, Mol Vis 2012; 18:1794-1802.
Table 3. Summary of the clinical characteristics of patients with suspected AS.
| Patients (Family) | ||||||
|---|---|---|---|---|---|---|
| Characteristics | # Cases | 6 (RP621) | 7 (RP176) | 8 (M304) | 9 (GBB11) | 10/11 (B66) |
| Sex | M | F | M | F | F/F | |
| Age | 57 | 39 | 40 | 20 | 29/24 | |
| RD | 6 | + (infancy) | + | + | + | +/+ |
| Nystagmus | 2 | + | + (3mo) | |||
| Achromatopsia | 1 | + | ||||
| Disiminished visual acuity | 3 | + | + (7y) | + | ||
| Night blindness | 3 | + (1year) | + (4y) | + (infancy) | ||
| Diminished visual field | 3 | + (1year) | + (1year) | + (11y) | ||
| ERG/VEP | 10/11 | NR/- | Reduced/- | Normal/ Normal | ||
| Obesity | 6 | + (42y) | + | + (15y) | + | +/+ |
| Sensorineural hearing loss | 1 | + (35y) | ||||
| Acanthosis nigricans | 2 | + | + | |||
| MR | 4 | + | + | +/+ | ||
| Hypogonadism | 1 | + | ||||
| Renal defect | 1 | Renal cyst | ||||
| Orthopedic | 1 | Small hands and feet | ||||
| Other clinical symptoms | 3 | Polyphagia | Hemeralopia (infancy) Dysplasia of the extremities, Facial dysmorphia | Hypoplasia of the dental enamel, Epileptic crisis (13y) | ||