Table 2.
Clinical data of the probands and available family members with CPSF1 mutations
| Patient ID | Nucleotide change | Gender | Age at onset | Age at exam | Visual acuity | Refraction (SE) | Axial length (mm) | |||
|---|---|---|---|---|---|---|---|---|---|---|
| OD | OS | OD | OS | OD | OS | |||||
| HM337 | c.1858C>T | M | 12 | 33 | 0.02 | 1.00 | −12.00 | −14.00 | NA | NA |
| HM635 | c.3862_3871dup | F | NA | 21 | 1.20 | 1.50 | −6.50 | −7.00 | NA | NA |
| HM653 | c.2823_2824del | F | NA | 15 | 1.00 | 1.00 | −10.25 | −9.25 | NA | NA |
| HM693 | c.15C>G | M | EC | 4 | 0.20 | 0.30 | −9.50 | −9.25 | 26.97 | 26.74 |
| HM943 | c.3823G>T | M | 4 | 7 | 0.70 | 0.70 | −10.25 | −10.50 | 27.09 | 27.00 |
| HM943M | c.3823G>T | F | EC | 28 | 0.06 | 0.10 | RD# | RD# | NA | NA |
| HM949 | c.4146-2A>G | M | 3 | 3 | NA | NA | −12.75 | −13.50 | 26.34 | 26.32 |
| HM949M | c.4146-2A>G | F | NA | 29 | 1.50 | 1.50 | −3.50 | −4.00 | 24.80 | 25.01 |
Notes: SE, spherical equivalent; OD, right eye; OS, left eye; F, female; M, male; NA, not available; EC, early childhood.; RD#, she had early onset high myopia but recently had complicated cataract due to uveitis and retinal detachment in both eyes.