Clinical information of the patients with KIF11 mutation
| Patient no./gender | Age at onset/examination | Mutation | First symptom | Visual acuity | Axial length (mm) | Main phenotypes | Ultrasonography | OFC† | Lymphoedema |
|---|---|---|---|---|---|---|---|---|---|
| QT1314I:2/F | 6 months/23 years | c.131_132dupAT | NYS | 20/250; 20/250 | 18.99; 17.19 | RFM, TDOD, FRF, RPC | NA | −4.1 | – |
| QT1314II:1/F | 4 months/6 months | c.131_132dupAT | NYS | LP; NRLO | NA; NA | MC, RFM, TDOD, FRF, RPC | MCOD | −5.5 | – |
| QT964II:2/F | 2 months/5 months | c.2230C>T | CO | NRLO* | 15.8; 14.1 | MC, CO | RD | −5.9 | – |
| QT964II:3/F | 2 months/5 months | c.2230C>T | CO | NRLO* | 15.5; 14.0 | MC, CO | RD | −6.4 | – |
| QT937I:1/M | NA/41 years | c.2863C>T | None | 20/20; 20/20 | 22.37; 22.37 | AZ | NA | −0.1 | – |
| QT937II:1/F | 3 months/6 months | c.2863C>T | NYS | 20/500; 20/500a | 19.77; NA | RFM, TDOD, FRF, CA, RPC | MCOD | −1.3 | – |
| QT761II:2/M | 6 months/6 months | c.2952_2955delGCAG | NRLO | NRLO | NA; NA | FRF, RPC | NA | Low‡ | – |
*The visual acuity was obtained when the patients were older than 4 years.
†Head circumference was measured in cm and corrected for age and sex following the discovery of the KIF11 mutations.
‡No measurements was available, but the parents complained microcephaly in the patient.
AZ, avascular zone; CA, chorioretinal atrophy; CO, corneal opacity; FRF, falciform retinal fold; LP, light pursuit; MC, microcornea; MCOD, membrane connected with optic disc; NA, not available; NRLO, no response to light or object; NYS, nystagmus; OFC, occipitofrontal head circumference; RD, retinal detachment; RFM, retrolenticular fibrotic mass; RPC, retinal pigment change; TDOD, temporal dragging of optic disc.