Figure 1. Compound heterozygous mutations in ABCA4 identified in the STGD family. A: The Chinese Stargardt disease pedigree and the complete cosegregation pattern of the compound heterozygous mutations in
ABCA4. B: The fundus images of both of the proband’s eyes showed yellow flecks on the retina and macular atrophy. C: Sanger sequencing results for the two mutations. D: Multiple alignment of ABCA4 indicated p.M1882 is highly conserved. m1: c.3523–2A>G; m2: c.5646G>A, p.M1882I; square: male; circle: female; filled symbol:
patient; unfilled symbol: unaffected member; black arrow: the proband; R: right eye; L: left eye.