Table 2 Clinical phenotypes of 20 unilateral high myopia probands with molecular diagnostic testing
Family | Sex | Age | First | VA (Snellen) | Refraction (SER) | AL (mm) | Fundus | OCT | FFA | Diagnosis information | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ID | At onset | At exam | Symptom | OD | OS | OD | OS | OD | OS | OD | OS | Â | OD | OS | Initial | Final | |
F1-II:1 | F | 3y4m | 3y4m | PV on PE | 0.1 | 0.2 | − 9.5 | − 2 | 23.78 | 21.95 | TF;DCA;PS;PCC | N; | G1(OD) | / | / | uHM | STL |
F2-II:2 | M | 5y10m | 5y11m | PV on PE | 1 | 0.05 | 0.75 | − 14.75 | 23.1 | 29.22 | N | TF;mild PCA;PCC | N | / | / | uHM | STL |
F3-II:2 | M | 3y6m | 4y7m | HM on PE | 0.7 | 0.5 | − 4.5 | − 10.5 | 25.67 | 27.51 | N | TF;DCA | / | / | / | uHM | STL |
F4-II:1 | F | 3y3m | 8y10m | PV on PE | 0.6 | 0.3 | − 5.75 | − 13.75 | 24.96 | 27.93 | N | TF;PCC | N | / | / | uHM | STL |
F5-II:2 | M | 5y3m | 5y5m | HM on PE | 1 | 0.15 | 0.25 | − 11.5 | 22.4 | 26.98 | N | TF | N | / | / | uHM | STL |
F6-II:2 | M | 5y2m | 5y2m | HM on PE | 0.8 | 0.04 | 1.5 | − 12.25 | 22.68 | 27.83 | N | FVH;TF;DCA;LD;PCD | G1(OS) | N | AZ;NV | uHM | STL |
F7-II:2 | F | 5y4m | 5y4m | PV on PE | FC | 0.7 | − 10 | 2 | 24.58 | 20.95 | TF;RVs | N | N | / | / | uHM | MFS |
F8-II:1 | F | 2y7m | 3y7m | HM on PE | 0.3 | 0.6 | − 6.5 | 0 | NA | NA | TF;PPA | N | / | / | / | uHM | MFS? |
F9-II:1 | F | EC | 11y5m | Extropia | 0.12 | 0.8 | NA | NA | 27.28 | 23.42 | TF;DCA | N | Â | AZ;NV;FL | AZ;NV;FL | uHM | FEVR |
F10-II:1 | M | 2y9m | 4y9m | MYP | 0.5 | 0.4 | − 2.75 | − 10 | 24.54 | 27.38 | TF;CC;LD | ODH;TF;DCA;LD;PCD | / | AZ;NV | AZ;NV | uHM | FEVR |
F11-II:1 | F | 5y | 6y1m | MYP | 0.4 | 0.8 | − 10 | 0.25 | 25.66 | 22.26 | TF;Rvs;PCD | N;PCD | N | AZ;NV;FL | AZ;NV;FL | uHM | FEVR |
F12-II:2 | M | 4y11m | 5y3m | MYP | 0.1 | 0.4 | − 11.5 | − 3.75 | 26.93 | 24.05 | TF;DCA;PS;LD | TF;DCA;PS;PCD | G1(OU) | / | / | uHM | FEVR |
F13-II:2 | M | 10m | 4y10m | Photophobia | 0.03 | 0.8 | − 6 | 1.65 | 25.87 | 22.64 | TF; ODH* | N | N | ME;AZ;NV;FL | AZ;NV;FL | uHM | FEVR |
F14-II:1 | F | 1y4m | 3y4m | HM on PE | 0.2 | 0.4 | − 8.75 | − 2.5 | 24.38 | 22.45 | TF;PPA:PCC | TF;PPA;PCC | / | / | / | uHM | CSNB1E |
F15-II:2 | F | 6y3m | 6y3m | PV on PE | 0.03 | 1 | − 12.25 | − 0.25 | NA | NA | TF;PPA;DCA | N | / | Hypo;Hype-AF# | Hyper-AF# | uHM | uHM |
F16-II:2 | F | 7y8m | 7y11m | PV on PE | 1 | 0.1 | 0.5 | − 8.5 | 23.45 | 26.82 | TF;ODH;PPA | TF;DCA | N | / | / | uHM | uHM |
F17-II:1 | F | 3y | 4y4m | PV on PE | 0.4 | 0.7 | − 6 | 0.25 | 23.53 | 21.71 | TF;PPA;PCC | PCC | N | / | / | uHM | OA1 carrier |
F18-II:1 | F | 2y3m | 4y3m | MYP | 0.2 | 0.6 | − 11.5 | − 1 | 25.25 | 21.96 | TF;PPA | N | G1(OU) | / | / | uHM | uHM |
F19-II:1 | M | 4y6m | 4y6m | EC-NYS | 0.12 | 0.01 | 0.5 | − 9 | 22.9 | 25.86 | TF;FVH | TF;DCA;FVH | / | / | / | uHM | NYS1 |
F20-II:2 | F | un | 29y | HM on PE | 0.5 | HM# | − 4.75 | − 15.12 | 24.13 | 30.2 | TF; PPA | TF;PA;MA | N | / | / | uHM | CSNB2A carrier |