PMC5369295_01
Right eye of the woman with circumferential iris ectropion (a), foveal hypoplasia (b), and absence of foveal avascular zone in fluorescein angiography (c). Left eye of the woman with circumferential iris ectropion (d), foveal hypoplasia (e), and absence of foveal avascular zone in fluorescein angiography (f). Right eye of her son with focal iris ectropion on inferonasal area (arrow) (g), foveal hypoplasia (h). Left eye of her son with a smooth cryptless iris surface on nasal area (arrow) (i), foveal hypoplasia (j)
IJO-65-55-g001.jpg
PMC5369295_02_IJO-65-55-g001.jpg
F1
He also had bilateral CIE with clear cornea [Fig. 1g and i]. Fundoscopic examination also showed bilateral foveal hypoplasia [Fig. 1h and j].
PMC5369295_02
Right eye of the woman with circumferential iris ectropion (a), foveal hypoplasia (b), and absence of foveal avascular zone in fluorescein angiography (c). Left eye of the woman with circumferential iris ectropion (d), foveal hypoplasia (e), and absence of foveal avascular zone in fluorescein angiography (f). Right eye of her son with focal iris ectropion on inferonasal area (arrow) (g), foveal hypoplasia (h). Left eye of her son with a smooth cryptless iris surface on nasal area (arrow) (i), foveal hypoplasia (j)
IJO-65-55-g001.jpg
PMC5369295_02_IJO-65-55-g001.jpg
F1
He also had bilateral CIE with clear cornea [Fig. 1g and i]. Fundoscopic examination also showed bilateral foveal hypoplasia [Fig. 1h and j].
A deletion at nucleotide 936 of the complementary DNA of exon 8 (c.936del). This mutation causes frameshift of protein 312 (p.G312fs). The mutation was present in both her son (a) and the woman (b)
IJO-65-55-g002.jpg
PMC5369295_02_IJO-65-55-g002.jpg
F2
The mutation was present as a heterozygous form in both the woman and her son [Fig. 2a and b].