Fig. 5

The phenotype of F16 proband with COL2A1 autogenetic mutation. (A) Wide-angle fundus photograph showed fundus tessellation; (B) anterior segment photography showed the vitreous is typically membrane-like; (C) pedigree of affected family; (D) sequence chromatograms of identified mutations; (E) The homology of amino acid sequences between human COL2A1 and other species. The amino acid at position 940 is highly conserved among species. The mutated residue 940 is boxed and indicated.