To confirm independently the involvement of TDRD7 in pediatric cataract, Lachke et al. (2011) identified a family with autosomal recessive congenital cataract in which homozygosity mapping identified a single block of shared homozygosity between the 4 affected sibs ... To confirm independently the involvement of TDRD7 in pediatric cataract, Lachke et al. (2011) identified a family with autosomal recessive congenital cataract in which homozygosity mapping identified a single block of shared homozygosity between the 4 affected sibs that spanned the TDRD7 locus. Bidirectional sequencing of the TDRD7 gene uncovered a novel in-frame 3-bp deletion that removed a highly conserved amino acid, val618 (611258.0001). The val618 mutation was not identified in 320 ethnically matched controls, and was predicted to disrupt the structure of TDRD7. Two of the 4 affected family members developed glaucoma with open-angle and increased intraocular pressure after cataract extraction.