Table 1 of López-Rubio, Mol Vis 2018; 24:105-114.


Table 1. Clinical data of STGD patients carrying the p.Ala1773Val mutation in ABCA4.

  Age/Sex* Photophobia† Nyctalopia† VA‡ RefractionΙΙ Mutation Evolution time (yr) Stage#
P1 32/F Y Y 20/400 −1.75 Homozygous 28 4
P2 26/F Y Y 20/200 −2.25 Homozygous 11 4
P3 27/F Y Y 20/400 −2.25 Homozygous 18 4
P4 16/F Y N 20/400–20/200 −2.00 Homozygous 8 3
P5 29/F Y N 4/200–20/300 −4.00 Homozygous 21 4
P6 30/F Y Y 20/300–20/200 −3.25 Homozygous 23 4
P7 32/F N Y 20/300 −2.50 Homozygous 19 4
P8 9/M N Y 20/200 −0.50 Homozygous 2 2
P9 19/M Y Y 20/300 −2.00 Heterozygous 12 3
P10 13/F Y Y 20/200 −2.50 Homozygous 5 3