Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.
The preferred title/symbol of this entry ... Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.'
Basti et al. (1996) described a 4-generation Indian family segregating autosomal dominant zonular cataracts with sutural opacities. All affected family members had bilaterally symmetric cataracts. The cataracts had a uniform zonular component that measured 3.5 to 4.0 in ... Basti et al. (1996) described a 4-generation Indian family segregating autosomal dominant zonular cataracts with sutural opacities. All affected family members had bilaterally symmetric cataracts. The cataracts had a uniform zonular component that measured 3.5 to 4.0 in diameter, a pulverulent fetal nucleus comprising discrete white dots and well-defined, erect Y-shaped anterior and inverted Y-shaped posterior sutural cataracts with the area enclosed by the zonular component. The degree of opacification of the zonular layer varied among family members, ranging from a uniform dense opacity to a collection of fine dots forming a hazy cloud. Qi et al. (2004) reported a Chinese family segregating autosomal dominant congenital nuclear cataract. They stated that nuclear cataract was first reported by Brown (1924). The opacity in nuclear cataract is located at the center of the lens and can have a marked effect on visual acuity.
In an Indian family with zonular cataract with sutural opacities described by Basti et al. (1996) and mapped to chromosome 17q by Padma et al. (1995), Kannabiran et al. (1998, 1999) identified a heterozygous splice site mutation in ... In an Indian family with zonular cataract with sutural opacities described by Basti et al. (1996) and mapped to chromosome 17q by Padma et al. (1995), Kannabiran et al. (1998, 1999) identified a heterozygous splice site mutation in the CRYBA1 gene (123610.0001). In affected members of a Chinese family segregating autosomal dominant congenital nuclear cataract, Qi et al. (2004) identified a heterozygous deletion in the CRYBA1 gene (123610.0002). The same deletion was identified by Reddy et al. (2004) in affected members of a British family with bilateral lamellar cataracts.