Cataracts, Congenital Nuclear Clinical CharacteristicsOcular Features: Congenital nuclear cataracts are the only ocular abnormalities in these conditions. There may be some cortical opacifications as well. The nuclear opacifications may not be sufficiently dense in some patients to require cataract surgery. Nothing is known of their natural history, however. Systemic Features: No systemic disease is associated with these congenital cataracts. GeneticsAll three of these nuclear cataracts are inherited in autosomal recessive patterns. They have been reported in rare families in which the parents were consanguineous. CATCN1 was reported in a 4-generation Pakistani family having an unknown mutation localized to 19q13. Another congenital nuclear cataract (CATCN2) results from mutations in the CRYBB3 (22q11.23) gene reported in 2 consanguineous Pakistani families. CATCN3 results from mutations in CRYBB1 (22q12.1) as reported in two consanguineous Israeli Bedouin families with 14 affected individuals. Pedigree: Autosomal recessiveTreatmentTreatment Options: Surgical removal may be indicated if the lens opacities are visually significant. Vision may be sufficiently impaired in some children that surgery is required before 2 years of age. ReferencesArticle Title: Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13. PubMed ID: 17460281 Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. PubMed ID: 15914629 A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):623-6. PubMed ID: 15671291 Read more about Cataracts, Congenital Nuclear
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13. PubMed ID: 17460281
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. PubMed ID: 15914629
A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):623-6. PubMed ID: 15671291
