Table 1 of Xiao, Mol Vis 2011; 17:3271-3278.

Table 1. Clinical data of the patients in the Chinese family with an Arg838His mutation in GUCY2D.

ID# Gender Age (years) at First symptom Visual acuity Refraction (diopters) Fundus changes ERG responses Color vision
    exam onset         Cones Rods  
I:1 F 54 Early childhood photophobia CF; CF* −10.0; −10.0 macular atrophy N/A N/A N/A
II:1 M 31 Early childhood photophobia 0.04; 0.04 −11.0; −10.0 macular atrophy N/A N/A abnormal
II:2 M 29 8 years photophobia 0.05; 0.1 −8.75; −7.00 macular atrophy reduced normal abnormal
II:4 M 28 7 years photophobia 0.03; 0.03 −7.00; −4.75 macular atrophy reduced normal abnormal
II:7 M 26 Early childhood photophobia 0.05; 0.04 −2.75; −0.25 macular atrophy reduced normal abnormal
II:8 F 19 6yrs photophobia 0.1; 0.1 −6.00; −7.00 macular atrophy N/A N/A abnormal
III:1 F 2.5 N/A no symptom N/A +0.25; plano macular white spots reduced normal N/A
III:2 F 0.75 N/A no symptom N/A −2.25; −1.00 macular white spots reduced normal N/A

Note: *This patient had horizontal nystagmus and mild cortical opacity of both lenses.

Xiao, Mol Vis 2011; 17:3271-3278. http://www.molvis.org/molvis/v17/a352

©2011 Molecular Vision http://www.molvis.org/molvis/

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