Table 1

Demographic and genetic information of study patients

IDSexRaceAgeNight blindness, age of onsetVA rightVA leftCorneal crystalsDNA mutationPredicted effectAllelic state
1FemaleWhite45N/A20/3220/50Yesc.1169G>Ap.Arg390HisHomozygous
2MaleWhite7655N/AN/ANoc.71T>Cp.Leu24ProHomozygous
3MaleBlack423220/3020/40Noc.965_967delAAGp.Glu322delHomozygous
4MaleWhite6864N/AN/AYesc.332T>C, c.283G>Ap.Ile111Thr, p.Gly95ArgHeterozygous
5MaleWhite504020/4020/200Yesc.1168C>Tp.Arg390CysHomozygous
  • N/A, not available; VA, visual acuity.