Table 2 Observed phenotypes in families with causative mutations identified in pediatric cataract associated genes
FamilyGeneAffected MembersPhenotypeAge at DiagnosisAge at SurgeryAge at Surgery
Right EyeLeft Eye
CSA95GJA3CSA95.010 yr0 yr0 yr
CSA95.0220 yr
CSA109GJA3CSA109.01Fetal nuclear cataract3 yr
CSA109.02Fetal nuclear/lamellar cataract5 yr16 yr17 yr
CRCH20GJA8CRCH20.02Bilateral congenital nuclear35 yr
CRCH20.07Bilateral minor lens opacities
CSA125GJA8CSA125.01Nuclear10 yr
CSA125.02Posterior polar6 yr
CSA162GJA8CSA162.01
CSA162.02
CSA159CRYAACSA159.01Severe congenital0 yr1 mo2 mo
CSA159.02Nuclear and cortical, blue-dot component: mild19 yr25 yr25 yr
CSA159.04Lamellar: mild4 yrNANA
CRVEEH111CRYAACRVEEH111.01Bilateral
CRVEEH111.04Bilateral17 mo17 mo
CRVEEH111.05Central, anterior polar rider, faint nuclear opacity only
CRVEEH111.06Central nuclear opacity
CSA94CRYGSCSA94.01Lamellar cortical-nuclear clear6 yr6 yr5 yr
CSA94.02Cortical4 yr6 yr5 yr
CSA94.03Lamellar2 yr3 yr4 yr
CSA94.04Lamellar2 yr5 yr5 yr
CRCH139CRYGACRCH139.02Congenital
CSA133CRYBB2CSA133.01
CSA133.03
CRVEEH85CRYBB2CRVEEH85.01Congenital
CRVEEH85.02Congenital2–3 yr3 yr3 yr
CRVEEH85.03Congenital
CRCH89GCNT2CRCH89.01Bilateral congenital3 wk3 wk
CRCH89.02Bilateral congenital1 yr1 yr
CRCH89.05Bilateral congenital
CRCH89.07Bilateral congenital
CRCH136aGCNT2CRCH136.01Bilateral dense central opacity
CRCH136.02Bilateral dense central opacity
CSA131MIPCSA131.01White dots20 yrNANA
CSA131.02White dots22 yrNANA
CSA131.04Cortical and nuclear sclerotic, multiple cortical dots as well as anterior cortical spokes45 yr46 yr46 yr
  • Missing data are indicated by “—”. NA indicates the individual has not had surgery to date.

  • a One heterozygous deletion detected in affected members of this family with autosomal recessive inheritance pattern.