Page 50 - Clinical variability in Noonan syndrome with emphasison ear and eye

CHAPTER 3
Table 2. Ocular Manifestations of Noonan Syndrome. Present Study Compared with the Literature
Ocular features
1. Vision and Refraction
Amblyopia
Visually impaired (BCVA < 0.3) Refraction anomaly (SEA ≥ 1 D)
Myopia
Hyperopia Astigmatism (≥ 1 D)
2. External Ocular Features
Epicanthic folds Mild
Moderate or severe Hypertelorism
Ptosis
Levator function < 10 mm Levator function < 5 mm Bilateral
Unilateral
RE/LE asymmetry
Ptosis surgery
High upper eyelid crease Lower eyelid retraction Slanting palpebral fissures
Upward slanting (> 5°) Normal range (0-5°) Downward slanting (< 0°)
Lagophthalmos (incomplete closure) Proptosis
Orbital dermoid cyst
Nasolacrimal duct obstruction
3. Strabismus and Ocular Motility
Strabismus Esotropia Exotropia
Vertical
Mixed
Strabismus surgery
Literature
Present study
18/55 (33) 2/55 (4) 33/57 (58) 8/57 (14) 20/57 (35) 21/57 (37)
22/56 (39) NR
NR 43/58 (74) 27/56 (48) NR
NR
NR
NR
NR 3/58 (5%) NR 2/56 (4)
4/58 (7) 32/58 (55) 22/58 (38) NR
1/56 (2) NR 1/56 (2)
28/58 (48) 13/58 (22) 10/58 (17) 4/58 (7) 1/58 (2) 5/58 (9)
3/10 (30) 0/10 (0) 7/10 (70) NR NR 7/10 (70)
5/10 (50)
NR NR NR NR
2/10 (20) 3/10 (30) NR NR 2/10 (20) 1/10 (10) 1/10 (10) 2/10 (20) NR NR
NR
NR 6/10 (60) NR NR 1/10 (10) 2/10 (20)
6/10 (60) 3/10 (30) 3/10 (30) 0/10 (0) 0/10 (0) 3/10 (30)
NR 2/18 (11) NR NR 1/18 (6) 1/18 (6) 1/18 (6) NR NR NR
NR NR NR NR 1/18 (6) NR
NR
12/18 (67) 3/18 (17) 9/18 (50 0/18 (0) 0/18 (0) NR
NR
NR 9/18 (50) 4/18 (22) 4/18 (22) 3/18 (17)
NR
NR
NR
NR
NR
NR
NR
NR
NR 20/35 (57) 18/35 (51) NR
NR
NR
NR
NR
NR
NR
NR
NR
NR 26/35 (74) NR 9/35 (26) NR
NR
5/35 (14) 3/35 (8) 2/35 (6) 0/35 (0) 0/35 (0) NR
21/65 (32) 2/65 (3) 49/85 (58) 12/75 (16) 24/75 (32) 31/85 (36)
27/66 (41) NR
NR 65/103 (63) 50/119 (42) NR
NR 3/28 (11) 2/28 (7) 2/28 (7) 5/68 (7) NR 2/56 (4)
4/58 (7) 32/58 (55) 54/103 (52) NR
11/109 (10) 1/10 (10) 3/66 (5)
51/121 (42) 22/121 (18) 24/121 (20) 4/121 (3) 1/121 (1) 8/68 (12)
8/25 (32) 1/25 (4) 14/25 (56) 10/25 (40)* 1/25 (4)* 13/25 (52)
21/25 (84)* 15/25 (60)* 6/25 (24)* 17/25 (68) 14/25 (56)* 5/25 (20)* 3/25 (12)* 9/25 (36)* 5/25 (20)* 10/25 (40)* 3/25 (12) 16/25 (64)* 15/25 (60)*
9/25 (36)* 8/25 (32) 8/25 (32)* 7/25 (28)* 1/25 (4)* 0/25 (0) 0/25 (0)
10/25 (40) 3/25 (12) 7/25 (28) 0/25 (0) 0/25 (0) 3/25 (12)
NR
48
Lee et al18 N = 58 n/N (%)
Reynolds et al25 N = 10
n/N (%)
Alfieri et al26 N = 18
n/N (%)
Marin et al19 N= 35
n/N (%)
Review of literature n/N (%)
Present cohort n/N (%)