Table 3 of Zhou, Mol Vis 2018; 24:560-573.


Table 3. Comparisons of clinical data between probands and affected family members with mutations.

  NO. (%)  
Parameter Probands Family members Comparison
  n=12 n=14  
Age (Y) 8.91±4.03 37.00±11.18 1.80E-08
eoHM 12 (100.0) 11 (78.6) 0.09
Refractive error -9.53±7.14 -13.60±6.17 0.13
Axial length 27.72±1.88 26.35±2.40 0.12
PVD/FH 9 (75.0) 13 (92.9) 0.21
Vitreous opacity 2 (16.7) 7 (50.0) 0.08
Retinal abnormility 0 (0.0) 5 (35.7) 0.02
HJ 11 (91.7) 3 (21.4) 3.42E-04
HJ (<16Y) 11/11 (100.0) 1/1 (100.0) 1.00
Other signs of STL diagnostic criteria      
Orofacial abnormality 10 (83.3) 10 (71.4) 0.47
Musculoskeletal abnormality 3 (25.0) 8 (57.1) 0.10
Hearing loss 5 (41.7)§ 7 (50.0) 0.67
Diagnosis of STL after follow-up exam 3 (25.0) 7 (50.0) 0.19
Diagnosis of STL if new signs added 8 (66.7) 13 (92.9) 0.09