Fig. 3

Figure 3. Pedigrees and clinical imaging of 3 unrelated coloboma families. A. F1 is a White British nonconsanguineous pedigree with 1 affected male patient (proband 1-3) harboring a de novo sporadic heterozygous missense variant in ANK3 NM_020987.5:c.11650A>T, p.(Thr3884Ser). B. Corresponding widefield color fundus photographs of the right and left eye of the proband aged 17 years showing bilateral inferior chorioretinal coloboma with extensive optic disc involvement (right eye is more severely affected than the left eye as indicated also by the residual best corrected visual acuity). C. F3 is an Indian nonconsanguineous pedigree with autosomal dominant inheritance; the mother and the 2 daughters were affected with a heterozygous missense variant in BMPR1B NM_001203.2:c.272G>T, p.(Arg91Ile). D. Widefield color fundus photograph of the right eye of the proband (3-4) aged 13 showed a large optic disc coloboma extending inferiorly with a region of associated retinal pigment epithelium atrophy below this. The left eye image was not available. Widefield color fundus photographs of the right and left eye of the proband (3-3) aged 18 showing bilateral optic disc coloboma sparing the macula, with irregular asymmetrical peripapillary atrophy in the right eye. E. F5 is a White Northern European nonconsanguineous pedigree with 1 affected male patient (proband 5-3) with a de novo sporadic heterozygous missense variant in BMPR1B NM_001203.2:c.671 G>A, p.(Arg224His). F. Anterior segment color photographs of the right and left eye of the proband aged 4 showing bilateral inferior iris coloboma and corresponding widefield color fundus photographs showing bilateral inferior chorioretinal coloboma with extensive optic disc and macular involvement. F1, family 1; F3, family 3; F5, family 5.