Supplementary Table2. Clinical ocular phenotypes in patients undergoing exome sequencing and family members.

Patient1,2 / Diagnosis / Cataract Description / Procedure, Eye, Age / HCD3(mm), Eye, Age / Axial length(mm), Eye, Age
Family 1, II.1,
(Patient 1)AD / Bilateral cataracts & microcornea / Nuclear / Lensectomy, R, 8 months & L, 12 months / 9.0, R & L, 2 years / 21.7, R; 21.4, L; 12 years
Family 1, III.1,
AD / Bilateral cataracts & microphthalmia / Nuclear / Lensectomy, R & L, 1 month / 9.5, R & L, 1 month / 16.24, R; 16.38, L; 1 month
Family 1, III.2,
AD / Bilateral cataracts & microphthalmia / Nuclear / Lensectomy, R & L, 6 weeks / 8.5, R & L, 6 weeks / 15.33, R; 15.66, L; 6 weeks
Family 1, III.3, AD / Bilateral cataracts & microphthalmia / Nuclear / Lensectomy, R & L, 6 weeks / 8.5, R & L, 6 weeks / 15.5, R; 15.38, L; 6 weeks
Family 2, (Patient 2), AD / Bilateral cataracts & microcornea / Nuclear / Lensectomy, R & L, 2 years / N/K / N/K
Family 2, affected son, AD / Bilateral cataracts / Nuclear / Lensectomy, R, 1 month & with PCIOL, L, 4 years / 10.0, R; 9.5, L; 1 month / 17.02,R; 17.49, L; 1 month
Family 3, II.1
(Patient 3) / Bilateral cataracts, microcornea & multiple iris processes to lens / Calcified anterior lens plaque / Lensectomy and pupilloplasty, R & L, 1 week / 9.0,R &L, 1 week / N/K
Family 4, I.2
(Patient 4), AD / Bilateral cataracts & microphthalmia / Nuclear / Lensectomy, R & L, 2 years
L eye, glaucoma, enucleation / N/K / N/K
Family 4, II.1, AD / Bilateral cataracts & microphthalmia / Nuclear / Lensectomy, R & L, 2 months / 9.0,R &L, 2 months / 15.69, R; 16.18,L; 2 months
Family 4, II.2, AD / Bilateral cataracts & microphthalmia / Nuclear / Lensectomy, R & L, 2 months / 9.0,R &L, 2 months / 15.47, R; 15.48, L; 2 months
Family 5, II.1
(Patient 5) / Bilateral Peters anomaly / Anterior polar opacities / Penetrating keratoplasty, R, 2 years, & L, 1 year / Unable to be measured due to nystagmus / Unable to be measured due to nystagmus
Family 6, II.1
(Patient 6) / Bilateral Peters anomaly & microphthalmia / Rudimentary lens / Lensectomy & dissection of iris from cornea, R, 7 months; Lensectomy, L, 2 months / 8.5, R; 6.0, L; 2 months / 17.0, R; 14.0, L; 2 months
Family 7,
(Patient 7) / Bilateral Peters anomaly & microphthalmia / - / - / 9.5, R; 10.5, L; 3 months / 15.1, R; 15.7, L; 1 month
Family 8,
(Patient 8) / Coloboma & limbal dermoid / Anterior polar cataract / - / N/K / 22.4, R; 22.06, L; 28 years
Family 9, II.1
(Patient 9), AR / Bilateral iris & fundal coloboma, Left microphthalmia / - / - / 10, R; 9, L; 3 months / N/K
Family 9, II.2, AR / Left fundal coloboma / - / - / Normal, 2 years / N/K
Family 10,II.1
(Patient 10) / Bilateral iris & fundal coloboma / - / - / 9.5, R; 9, L; 4.5 years / 22.9, R; 24.1, L; 4.5 years
Family 11,II.1
(Patient 11) / Bilateral iris & fundal coloboma, Right microphthalmia / - / - / 10, R; 12, L; 7 years / N/K

1Pedigree position as per pedigrees in Figure 2 and Supplementary Figures 2 and 3

2Inheritance Pattern given if known from pedigree, AD, Autosomal dominant, AR, Autosomal recessive

3HCD, Horizontal Corneal Diameter

N/K – Not known due to no record of information