Table 2 of Cohen, Mol Vis 2012; 18:2915-2921.

Table 2. Clinical characteristics of individuals homozygous for the CDHR1 c.1485+2T>G mutation

Patient No. Sex Age (y) Visual acuity Refractive error Color vision (Ishihara) FFERG*
Age (y) Eye LA: single flash LA: flicker (30Hz) DA: (μV)║
IV-2 F 36 6/120(OU) OD −11 1st panel not seen (OU) 23 OD NR ND a 0 b 80 †
OS −13 OS NR ND a 0 b 50
IV-3 F 38 6/120(OU) ND 1st panel not seen (OU) 30 OD NR NR a 0 b 17 ‡
OS ND ND ND

F, Female; y, years; OD, right eye; OS, left eye; OU, both eyes; NR, Non-Recordable; ND, Not Determined *Full-Field Electroretinogram; LA: light adaptation (cone ERG); DA: dark adaptation (rod ERG) ║ERG recordings for the two patients were performed with different systems. Therefore, the normal range is indicated for each patient separately. †DA: Normal a-wave 260–630μV; Normal b-wave 440–800 μV ‡DA: Normal a-wave 160–320 μV; Normal b-wave 300–500 μV

Cohen, Mol Vis 2012; 18:2915-2921. http://www.molvis.org/molvis/v18/a297

©2012 Molecular Vision http://www.molvis.org/molvis/

ISSN 1090-0535