Figure 1. CTNNA1 mutations in families with FEVR.

(A) FEVR pedigrees and Sanger sequencing analysis show the inheritance of FEVR (patients are denoted with black symbols). Three heterozygous mutations in CTNNA1 were identified. Black arrows indicate the proband of each family. Red arrows indicate the changed nucleotides. Affected amino acids are denoted in red and are conserved among different species. (B) Schematic representation of the CTNNA1 protein domains showing the location of variants identified in this study. (C and D) Fundus fluorescein angiography (FFA) (C) and fundus photography (D) of a 31-year-old patient (I:1) in family 3016, a 25-year-old patient (I:2) in family 34, a 27-year-old patient (I:2) in family 3004, and a normal individual.