Table 1. Demographic and clinical data and visual function (phenotype) of subjects with mutations

BCVA represents best corrected visual acuity, RE represents right eye, LE represents left eye, CF represents count fingers, RS represents ring scotoma, AS represents arcuate scotoma, MD represents macular degeneration, MF represents myopic fundus, PBSL represents pigmentbone spicule-like, PP represents peripheral pigmentation, TLR represents tapetal-like reflex, N represents normal, NA represents not available, n.d represents not determined. Asterisk representsthe II:3 in family A were examined at 33 year old.