MD-0723 STGD1 23 c.3386G>T p.(Arg1129Leu) 47 c.6410G>A p.(Cys2137Tyr) - 13 13 Yes 15y Cone-pattern 0.2/0.2 This study
This variant is found in compound heterozygosity with c.3386G>T p.(Arg1129Leu) in family MD-0723 in this study. Proband is 13yo at onset of VA loss and VF loss with night blindness. 15yo at opthalmological exam. Cone pattern on ERG. BCVA=0.2/0.2. Eligible for PP4.