Figure 1. Pedigree of the M107 family with autosomal dominant Stargardt4-like macular dystrophy and clinical assessment of affected proband.

A. Pedigree of the M107 family. Family number and disease-causing mutation (s) are noted at this pedigree. Normal individuals are shown as clear circles (females) and squares (males), affected individuals are shown as filled symbols. The patient above the arrow indicates proband (II: 2) (molecular no.: M107). Individuals with heterozygous mutation are represented in filled symbols. Targeted next generation sequencing individual indicated with arrow. B., D. Fundus photography of the left and right eyes, respectively. C., E. Fundus autofluorescences of left and right eyes, respectively. F., G. OCT characterization of the left and right eyes with conclusive genetic defects, respectively. The macular progressive depigmentation with atrophy and pigment clumping are major complement of proband.