PMC7379893_01
The clinical features of the family. (A) The family pedigree. (B) Color fundus photographs (Panoramic, anterior, and posterior) of the I-1. (C) Color fundus photographs (Panoramic and posterior) of the II-1. left column: left eye; right column: right eye.
fped-08-00380-g0001.jpg
PMC7379893_01_fped-08-00380-g0001.jpg
F1
The proband (I-1) (Figure 1A) was a 38-year-old Chinese woman, she presented with bilateral choroid colobomas. The other one which covered an area of 2 PD, was located in 0.5 PD underneath the optic disc of the right eye (Figure 1B). Her daughter (II-1) (Figure 1A) was 6 years old and had a relatively severe phenotype presented with larger bilateral choroidal coloboma, plus a high-vaulted arch. One choroidal coloboma existed around the 1/3 inferior quadrant underneath the left eye's optic disc, the other one existed around the 1/4 inferior quadrant underneath the right eye's optic disc (Figure 1C). The proband's husband (I-2) (Figure 1A) had no ocular and other developmental anomalies.
Confirmation of the four mutations by Sanger sequencing. (A)
TFAP2A NM_001042425.2: c.912C>A p.(Cys304*). (B)
ADAM9 NM_003816.2: c.1130+2dup. (C)
C1QTNF5 NM_015645.5: c.43G>A p.(Gly15Ser). (D)
EYS NM_001142800: c.2791G>A p.(Glu931Lys).
fped-08-00380-g0002.jpg
PMC7379893_01_fped-08-00380-g0002.jpg
F2
II-1 had the heterozygous variants, c.912C>A, p.(Cys304*) in TFAP2A, c.43G>A, p.(Gly15Ser) in C1QTNF5, c.2791G>A, p.(Glu931Lys) in EYS gene, I-2 did not have mutations at these sites. I-2 and II-1 had the heterozygous variant c.1130+2dup in ADAM9. I-1 is normal at this site (Figure 2).