Description of clinical characteristics of the family members and the sporadic case with SLC39A5 mutations
| Sample ID | Sex | Affection status | Age at onset (years) | Age at exam (years) | Corneal power | Refractive error (DS) | Axial length(mm) | Mutations | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| OD | OS | OD | OS | OD | OS | ||||||
| HM-FR3 | |||||||||||
| M16344 | M | U | NA | 70 | 42.75/43.01 | 42.50/44.62 | −0.34 | −0.50 | 24.2 | 23.8 | NO |
| M16345 | F | A | 10 | 68 | 43.50/44.75 | 43.01/44.25 | −5.00 | −7.00 | 26.14 | 27.65 | c.C141G:p.Y47X |
| M16346 | F | A | 3 | 47 | 41.57/42.75 | 42.01/43.50 | −25.00 | −20.00 | 33.32 | 32.09 | c.C141G:p.Y47X |
| M16348 | M | U | NA | 44 | 40.65/41.34 | 40.50/42.45 | +1.00 | +0.50 | 23.5 | 23.9 | NO |
| M16347 | F | A | 5 | 42 | 41.75/42.23 | 41.50/42.35 | −9.00 | −13.00 | 28.13 | 29.41 | c.C141G:p.Y47X |
| M19118 | F | U | NA | 28 | 41.21/43.89 | 41.50/43.25 | −0.30 | −0.25 | 24.0 | 24.5 | NO |
| M16349 | M | A | 8 | 35 | 42.35/44.62 | 42.75/44.25 | −5.00 | −7.00 | 27.87 | 28.52 | c.C141G:p.Y47X |
| M16350 | M | A | 8 | 15 | 43.25/44.00 | 43.75/44.50 | −7.50 | −7.00 | 26.35 | 26.29 | c.C141G:p.Y47X |
| M21932 | M | U | NA | 17 | 42.75/43.50 | 42.02/43.65 | −0.22 | −0.45 | 23.8 | 24.1 | NO |
| HM-ZZ19 | |||||||||||
| M20111 | M | U | NA | 50 | 40.87/41.50 | 40.25/42.50 | −1.00 | −1.00 | 23.9 | 24.00 | NO |
| M20112 | F | A | 10 | 48 | 43.19/44.25 | 43.94/45.25 | −8.00 | −8.50 | 27.50 | 28.35 | c.T911C:p.M304T |
| M20113 | M | A | 5 | 23 | 43.75/44.12 | 44.00/45.25 | −6.50 | −5.25 | 26.54 | 26.52 | c.T911C:p.M304T |
| Sporadic | |||||||||||
| M21789 | M | A | 9 | 45 | 41.26/42.79 | 41.38/43.21 | −20.00 | −18.50 | 31.34 | 29.58 | c.C141G:p.Y47X |
OD represents right eye and OS represents left eye.
A, affected; DS, diopter sphere; F, female; M, male; U, unaffected.