Table 2 of
Piñeiro-Gallego, Mol Vis 2012; 18:1794-1802.
Table 2 of
Piñeiro-Gallego, Mol Vis 2012; 18:1794-1802.
Table 2. Summary of the clinical characteristics of patients with confirmed AS.
| Patients (Family) | ||||||
|---|---|---|---|---|---|---|
| Characteristics | # Cases | 1 (RP1087) | 2 (RP118) | 3 (RP793) | 4 (RP401) | 5 (RP1232) |
| Sex | F | M | F | F | F | |
| Age | 33 | 40 | 11 | 35 | 24 | |
| RD | 5 | + | + (3y) | + (8mo) | + (16y) | + |
| Nystagmus | 3 | + (5mo) | + (9mo) | + (1year) | ||
| Achromatopsia | 2 | + (1wk) | + (1year) | |||
| Photophobia | 4 | + (9mo) | + | + (1year) | + | |
| Disiminished visual acuity | 4 | + (2y) | + | + (14y) | + | |
| Night blindness | 4 | + (2y) | + (3y) | + (1year) | + (1year) | |
| Diminished visual field | 4 | + (2y) | + (3y) | + (14y) | + (1year) | |
| ERG/VEP | 1/3 | NR/- | NR/- | NR/NR | ||
| T2DM | 3 | + (25y) | + (19y) | + (9y) | ||
| Obesity | 4 | + (5mo) | + (9mo) | + | + (1year) | |
| Sensorineural hearing loss | 4 | + (21y) | + | + | + (5y) | |
| Acanthosis nigricans | 3 | + | + | + | ||
| MR | 1 | + | ||||
| Hypogonadism | 1 | + | ||||
| Renal defect | 1 | NP | ||||
| Short stature | 1 | + | ||||
| Hypothyroidism | 2 | + | + (11y) | |||
| DCM | 1 | + | ||||
| Hepatic defect | 1 | Steatohepatitis | ||||
| Orthopedic | 2 | Scoliosis | Scoliosis, Clinodactyly | |||
| Other clinical symptoms | 3 | Ogival palate, Strabismus, Hyperopia | Ophthalmoplegia | Irregular menses, UBH, HA, HI, PCOS | ||