Table 1 Comparisons of demographic and clinical characteristics between the patients and affected members of the previous generation
Total (n = 26) | Patient (n = 12) | Parents and/or grandparents (n = 14) | p | |
|---|---|---|---|---|
Sex | 0.127 | |||
Male | 9(35%) | 6(50%) | 3(21%) | |
Female | 17(65%) | 6(50%) | 11(79%) | |
Age of onset | 16.0 ± 10.1 | 9.5 ± 4.5 | 21.6 ± 10.4 | 0.001* |
Amblyopia | 0.034* | |||
Present | 16(62%) | 10(83%) | 6(43%) | |
Absent | 10(38%) | 2(17%) | 8(57%) | |
Motility disorders | 0.009* | |||
Present | 17(65%) | 11(92%) | 6(43%) | |
Absent | 9(35%) | 1(8%) | 8(57%) | |
Corneal abnormalities | 0.490 | |||
Present | 5(19%) | 3(25%) | 2(14%) | |
Absent | 21(81%) | 9(75%) | 12(86%) | |
Optic nerve abnormalities | 0.449 | |||
Present | 3(12%) | 2(17%) | 1(7%) | |
Absent | 23(88%) | 10(83%) | 13(83%) | |
Ptosis | 0.345 | |||
Present | 25(96%) | 12(100%) | 13(93%) | |
Absent | 1(4%) | 0(0%) | 1(7%) | |
Proptosis | 0.127 | |||
Present | 9(35%) | 6(50%) | 3(21%) | |
Absent | 17(65%) | 6(50%) | 11(79%) | |
Canthal abnormalities | 0.356 | |||
Present | 22(85%) | 11(92%) | 11(79%) | |
Absent | 4(15%) | 1(8%) | 3(21%) | |
Café au lait spots | 1.000 | |||
Present | 26(100%) | 12(100%) | 14(100%) | |
Absent | 0(0%) | 0(0%) | 0(0%) | |
Facial descent | 0.126 | |||
Present | 11(44%) | 7(58%) | 4(29%) | |
Absent | 15(56%) | 5(42%) | 10(71%) | |
Cheek deformities | 0.126 | |||
Present | 11(44%) | 7(58%) | 4(28%) | |
Absent | 15(56%) | 5(42%) | 10(72%) | |
Bony orbital expansion | 0.019* | |||
Present | 9(35%) | 7(58%) | 2(14%) | |
Absent | 17(65%) | 5(42%) | 12(86%) | |
Soft tissue expansion of eyelids | 0.173 | |||
Present | 25(96%) | 12(100%) | 12(86%) | |
Absent | 1(4%) | 0(0%) | 2(14%) |