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 | ||
F: Female; M: male; RD: Retinal dystrophy; ERG: electroretinogram; VEP: Visual evoked potentials; NR: No response; T2DM: Type 2 diabetes mellitus; NP: Nephronophthisis; MR mental retardation; DCM: Dilated cardiomyopathy; UBH: Unilateral breast hypoplasia; HA: Hyperandrogenism; HI: hyperinsulinemia; PCOS: Polycystic ovary syndrome. The age of onset of features is reported in parentheses.