Cataracts, Congenital Zonular With Sutural Opacities Clinical CharacteristicsOcular Features: This form of heritable congenital cataracts consists of both zonular and sutural opacities. Both anterior and posterior Y sutures are involved with fine dots. The zonular opacities consist of a hazy cloud of fine, minute dots so vision is usually good as the opacities are not dense. The dots are arranged in a lamellar or clumped pattern with the fetal nucleus most consistently involved. There is often a faint cloud of white dots at the suture ends. Most of the phenotypic variation is in the density of the opacities rather than their location. Older individuals often develop nuclear and posterior subcapsular sclerosis. Systemic Features: No systemic abnormalities have been reported. GeneticsThis is an autosomal dominant disorder. A mutation in the CRYBA1 gene (17q11-q12) segregates with the phenotype. A form of congenital cerulean cataract (115660) also maps to the long arm of chromosome 17 but in the q24 region. Another type of autosomal dominant congenital sutural cataract (607133) has been reported in a single 5 generation Indian family in which a mutation in CRYBB2 on chromosome 22 was associated. Pedigree: Autosomal dominantTreatmentTreatment Options: Cataract surgery can be considered if vision is significantly impacted. ReferencesArticle Title: Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1 Yu Y, Li J, Xu J, Wang Q, Yu Y, Yao K. Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYOE?A3/A1. Mol Vis. 2012;18:2213-20. PubMed ID: 22919269 Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12 Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am J Hum Genet. 1995 Oct;57(4):840-5. PubMed ID: 7573044 Autosomal dominant zonular cataract with sutural opacities in a four-generation family Basti S, Hejtmancik JF, Padma T, Ayyagari R, Kaiser-Kupfer MI, Murty JS, Rao GN. Autosomal dominant zonular cataract with sutural opacities in a four-generation family. Am J Ophthalmol. 1996 Feb;121(2):162-8. PubMed ID: 8623885 A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, B?orger J. A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet. 2001 Jun;38(6):392-6. PubMed ID: 11424921 Read more about Cataracts, Congenital Zonular With Sutural Opacities
Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1 Yu Y, Li J, Xu J, Wang Q, Yu Y, Yao K. Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYOE?A3/A1. Mol Vis. 2012;18:2213-20. PubMed ID: 22919269
Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12 Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am J Hum Genet. 1995 Oct;57(4):840-5. PubMed ID: 7573044
Autosomal dominant zonular cataract with sutural opacities in a four-generation family Basti S, Hejtmancik JF, Padma T, Ayyagari R, Kaiser-Kupfer MI, Murty JS, Rao GN. Autosomal dominant zonular cataract with sutural opacities in a four-generation family. Am J Ophthalmol. 1996 Feb;121(2):162-8. PubMed ID: 8623885
A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, B?orger J. A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet. 2001 Jun;38(6):392-6. PubMed ID: 11424921
