Fig. 4 | Scientific Reports

Fig. 4

From: Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families

Fig. 4

The phenotype of F23 pedigree with TSPAN12 mutation. (A) The fundus fluorescein angiography (FFA) of F23 proband: The peripheral blood vessels of both eyes were straight with decreased density, abnormal anastomosis of terminal arteries and veins, and peripheral telangiectasia with a small amount of leakage; (B) The FFA of F23 proband’s father: the vessels in both eyes did not develop to the periphery and terminated in front of the serrated edge, with a clear crest-like demarcation between the avascular area and the normal vascularized retina. The peripheral retinal vascular branches are numerous, with brush-like changes and a small amount of leakage. (C) Pedigree of affected family; (D) Sequence chromatograms of identified mutations; (E) The homology of amino acid sequences between human TSPAN12 and other species. The amino acid at position 151 is highly conserved among species. The mutated residue 151 is boxed and indicated.

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