Figure 5. Pedigrees and ocular examinations of patients from families 026027 and 026058 showing intrafamilial phenotype heterogeneity.
A: Pedigree and segregation analysis of family 026027 with mutation p.P286Lfs*79 (M1). The proband (I:1) presenting a full
iris and his son (II:1) showing a partial loss of the iris. The fundus photographs of the two patients display flat foveae.
B: Pedigree and segregation analysis of family 026058 with mutation p.N260K (M2). Anterior segment photograph of the proband
(II:1) showing microcornea, partial loss of the iris, and cataract. His mother (I:2) showed aniridia-related keratopathy and
a full iris. Their fundus photographs are blurred due to cataract (I:2) or showing tessellated like (II:1). + indicates wild