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. 2011 Jun 9;7(6):e1002084. doi: 10.1371/journal.pgen.1002084

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.