Table 3 of Zhou, Mol Vis 2015; 21:213-223.

Table 3. Clinical information of eight subjects with the mutations in our study.

Mutation Gender Age (years) at Spherical refraction (diopters) Axial length (mm) BCVA ERG responses
exam onset OD OS OD OS OD OS rod cone
c.626G>C M 5 EC −9.00 −10.00 25.28 24.93 0.3 0.2 absent diminished
c.121delG M 31 EC −16.00 −9.50 29.87 27.66 0.2 0.4 absent diminished
c.335T>C M 11 EC −10.00 −11.00 N/A N/A 0.5 0.5 N/A N/A
c.529–530GC>AT M 15 EC −21.00 −20.00 30.71 30.38 0.5 0.6 normal SD
c.529–530GC>AT I1 M 37 EC −5.50 −5.25 24.39 24.37 1.0 1.0 normal normal
c.529–530GC>AT I2 F 39 None −0.25 −0.12 23.88 24.01 1.0 1.0 normal normal
c.529–530GC>AT II2 M 13 EC −7.00 −4.50 26.12 25.18 0.6 1.0 normal SD
c.529–530GC>AT II3 M 9 EC −11.37 −7.50 27.93 26.95 0.2 0.6 normal SD

Abbreviations: BCVA: best corrected visual acuity; ERG: electrophysiology; EC: early childhood; M: male; F: female; OD: right eye; OS: left eye; SD: slightly diminished; N/A: not available.

Zhou, Mol Vis 2015; 21:213-223. http://www.molvis.org/molvis/v21/213

©2015 Molecular Vision http://www.molvis.org/molvis/

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