Table 5. The clinical features of affected patients with a ZNF644 gene mutation in the 300 sporadic cases with high myopia.
Family | Subject No. | Age (Yr)* | Gender | Axial length (mm)** | Refractive errors (DS)** | Fundus appearance** | ZNF644 mutation | ||||||
OD | OS | OD | OS | OD | OS | Nucleotide change | Exon | Amino acid change | Chr.1 location | ||||
JS007 | JS007001 | 26 | M | 26.1 | 26.1 | −10.02 | −9.47 | conus | conus | 2091 A>G | 3 | I587V | 91177740 |
JS103 | JS103001 | 55 | F | 29.1 | 29.2 | −14.47 | −15.03 | tigroid, CA, Fuchs spot | tigroid, CA, Fuchs spot | 2091 A>G | 3 | I587V | 91177740 |
JS104 | JS104001 | 53 | M | 31.5 | 29.4 | −17.25 | −16.49 | tigroid, CA | tigroid, CA, Fuchs spot | 2091 A>G | 3 | I587V | 91177740 |
JS078 | JS078001 | 28 | F | 27.8 | 27.0 | −12.03 | −9.47 | tigroid, macular atrophy | tigroid or tesselated | 2091 A>G | 3 | I587V | 91177740 |
JS131 | JS131001 | 31 | M | 27.2 | 27.1 | −14.67 | −15.04 | tigroid or tesselated | tigroid | 2091 A>G | 3 | I587V | 91177740 |
JS010 | JS010001 | 29 | M | 26.5 | 26.1 | −10.52 | −9.54 | conus | conus | 2180 C>G | 3 | R680G | 91177461 |
JS064 | JS064001 | 32 | F | 28.4 | 28.4 | −9.54 | −10.97 | tigroid, conus | tigroid | 2238 G>A | 3 | C699Y | 91177403 |
JS080 | JS080001 | 25 | F | 26.8 | 27.0 | −11.26 | −11.45 | tigroid | tigroid | 2238 G>A | 3 | C699Y | 91177403 |
JS075 | JS075001 | 19 | M | 30.5 | 28.5 | −18.02 | −15.02 | tigroid, conus | tigroid | 4138 C>G | 6 | 3′UTR+12 C>G | 91154931 |
JS027 | JS027001 | 63 | F | 26.3 | 26.5 | −8.02 | −9.04 | tigroid, conus | tigroid, conus | 4718 G>A | 6 | 3′UTR+592 G>A | 91154351 |
JS047 | JS047001 | 46 | M | 28.5 | 28.7 | −15.96 | −16.02 | tesselated, conus, CNV | tesselated, conus | 4718 G>A | 6 | 3′UTR+592 G>A | 91154351 |
*The age when the patients were recruited.
**OD: right eye; OS: left eye; DS, diopter sphere; CA: choriocapillaris atrophy; CNV: choroidal neovascularization.