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. Author manuscript; available in PMC: 2013 Dec 1.
Published in final edited form as: Am J Ophthalmol. 2012 Sep 7;154(6):987–1001.e1. doi: 10.1016/j.ajo.2012.06.003

TABLE.

Genotype and Phenotype Summary of 5 Patients with Complete Congenital Stationary Night Blindness or Oguchi Disease and 1 Normal Control

Patient Age(y)/
Gender
BCVA
(OD; OS)
Refractive error,
diopters (OD;OS)
Phenotype Affected
Gene
Allele 1 Allele 2 Source
JC_0677 23/F 20/12; 20/12 −1.50 sphere;
−1.50 sphere
Normal ND ND ND This
Study
DH_0491 41/M 20/16; 20/16 No correction Oguchi Disease GRK1 c. 1129G>C, p.Ala377Pro c.1139T>A, p.Val380Asp This
Study
DH_0819 47/M 20/32; 20/25 + 0.25 sphere;
No correction
Oguchi Disease GRK1 c. 1129G>C, p.Ala377Pro c.1139T>A, p.Val380Asp This
Study
JC_0550 30/F 20/16; 20/16 −0.75/0.75 × 30;
−0.50 sphere
complete congenital
stationary night
blindness
GRM6 c.172G>A, p.Gly58Arg IVS2-1G>T (c.722-1G>T) This
Study
JC_0682 13/F 20/32; 20/20 −1.00/−1.25 × 105;
−0.50/−2.50 × 50
complete congenital
stationary night
blindness
GRM6 c.2267G>A, p.Gly756Asp c.2267G>A, p.Gly756Asp Ref. 42
JC_0684 32/F 20/30; 20/30 −0.50/−1.00 × 80;
−0.50/−1.50 × 105
complete congenital
stationary night
blindness
GRM6 c.2029C>T, p.Arg677Cys c.2029C>T, p.Arg677Cys Ref. 42

F = female; M = male; BCVA = best-corrected visual acuity; OD = right eye; OS = left eye; ND = not done.