Table 1.
Patient characteristics at diagnosis
| All (93) | ONH (12) | SOD (29) | SODplus (52) | P value | |
|---|---|---|---|---|---|
| Median age (month) | 10 (0–202) | 33 (1–119) | 7.5 (0–202) | 8.5 (0–168) | 0.005 |
| Sex |
1.0 |
||||
| % female | 44.1 (41/93) [33.8–54.8] | 41.7 (5/12) [15.1–72.3] | 48.5 (14/29) [29.4–67.5] | 42.3 (22/52) [28.7–56.8] | |
| Hypoglycemia, % | 29.4 (25/85) [20.0–40.2] | 20.0 (2/10) [2.5–55.6] | 33.3 (9/27) [16.5- 53.9] | 29.2 (14/48) [17.0–44.1] | 0.7 |
| Prematurity, % | 53.6 (30/56) [40.0–67.0] | 66.7 (4/6) [22.3–95.6] | 58.8 (10/17) [32.9–81.6] | 48.5 (16/33) [30.8–66.5] | 1.0 |
| Seizures, % | 20.0 (17/87) [12.1–30.1] | 0 (0/12) | 7.1 (2/28) [0.9–23.5] | 31.9 (15/47) [9.1–47.1] | 0.2 |
| Developmental delay, % | 32.9 (28/85) [23.1–43.9] | 20.0 (2/10) [2.5–55.6] | 25.0 (7/28) [10.7–44.9] | 40.4 (19/47) [26.4–55.7] | 0.5 |
| Bilateral reduced vision, % | 58.1 (50/86) [47.0–68.7] | 58.3 (7/12) [27.7–84.5] | 56.0 (14/25) [34.9–75.6] | 61.2 (30/49) [46.2–74.8] | 0.1 |
| Bilateral legal blindness, %* | 33.7 (29/86) [23.9–44.7] | 33.3 (4/12) [9.9–65.1] | 28.0 (7/25) [12.1–49.4] | 36.7 (18/49) [23.4–51.7] | 0.8 |
| Bilateral normal vision, % | 17.4 (15/86) [10.1–27.1] | 0 (0/12) | 20.0 (5/25) [6.8–40.7] | 20.4 (10/49) [10.2–34.3] | 0.5 |
| Nystagmus, % | 36.5 (31/85) [26.3–47.6] | 45.5 (5/11) [16.8–76.6] | 35.7 (10/28) [18.6–55.9] | 34.7 (16/46) [21.4–50.2] | 0.2 |
| Hormone deficiencies | |||||
| GH, % | 9.3 (8/86) [4.1–17.5] | 20.0 (2/10) [2.5–55.6] | 10.7, (3/28) [2.2–28.2] | 6.3 (3/48) [1.3–17.2] | 0.2 |
| Cortisol, % | 25.6 (22/86) [16.8–36.1] | 10.0 (1/10) [0.0–44.5] | 32.1 (9/28) [15.8–52.4] | 25.0 (12/48) [13.6–39.6] | 0.4 |
| TSH, % | 20.9 (18/86) [12.9–31.0] | 0 (0/12) | 35.1 (10/28) [18.6–55.9] | 16.7 (8/48) [7.5–30.2] | 0.1 |
| LH/FSH or micropenis, % | 5.4 (5/93) [1.8–12.1] | 8.3 (1/12) [0.2–38.5] | 3.5 (1/29) [0.0–17.8] | 5.7(3/52) [1.2–15.9] | 0.5 |
| ADH, % | 2.4 (2/85) [0.2–8.2] | 0 (0/12) | 0 (0/28) | 4.3 (2/47) [0.5–14.5] | 0.8 |
Values are median (range), % (n/total) [95% CI]. ADH Antidiuretic hormone; FSH Follicle-stimulating hormone; GH Growth hormone; LH Luteinizing hormone; ONH Optic nerve hypoplasia; SOD Septo-optic dysplasia; SODplus SOD associated with visual, pituitary and severe central nervous system structural abnormalities; TSH Thyroid-stimulating hormone. *Subgroup of bilateral reduced vision