Abstract
Anterior polar cataract can occur as a sporadic finding, in association with other ocular abnormalities or as an inherited, autosomal dominant disorder. We have demonstrated linkage in a family with autosomal dominant anterior polar cataract to the short arm of chromosome 17, locating the gene to the region 17p12-13. All affected members of this large family had an opacity at the anterior pole of the lens that varied only in size and the effect on visual acuity. Anterior polar cataract is thought to have a minimal effect on visual acuity although in the affected members of this family there was a high incidence of unilateral amblyopia.
Similar content being viewed by others
Article PDF
References
François J . Genetics of cataract: Ophthalmologica 1982;184:61–71.
Eiberg H, Lund AM, Warburg M, Rosenberg T . Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet 1995;96:33–8.
Ionides ACW, Berry V, Mackay DM, Moore AT, Bhattacharya SS, Shiels A . A posterior polar cataract maps to chromosome 1p. Hum Mol Genet 1997;6:47–51.
Renwick JH, Lawler SD . Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann Hum Genet 1963;27:67–84.
Lubsen NH, Renwick JH, Tsui L-C, Breitman ML, Schoenmakers JGG . A locus for a human hereditary locus is closely linked to the γ-crystallin gene family. Proc Natl Acad Sci USA 1987;84:489–92.
Rogaev EI, Rogaeva EA, Korovaitseva GI, Farrer LA, Petrin AN, Keryanov SA, et al. Linkage of polymorphic congenital cataract to the γ-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet 1996;5:699–703.
Eiberg H, Marner E, Rosenberg T, Mohr J . Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet 1988;34:272–5.
Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, et al. Autosomal dominant zonular cataract with sutural opacities localised to chromosome 17q11-12. Am J Hum Genet 1995;57:840–5.
Armitage MM, Kivlin JD, Ferrell RE . A progressive early onset cataract gene maps to human chromosome 17q24. Nature Genet 1995;9:37–40.
Brackenhoff RH, Henskens HAM, van Rossum MWPC, Lubsen NH, Schoenmakers JGG . Activation of the γE-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum Mol Genet 1994;3:279–83.
Berry V, Ionides ACW, Moore AT, Plant C, Bhattacharya SS, Shiels A . A locus for anterior polar cataract on chromosome 17p. Hum Mol Genet 1996;5:415–9.
Duke-Elder S, editor. System of ophthalmology, vol III, part 2: Normal and abnormal development: congenital deformities. St Louis: CV Mosby, 1964:717–23.
Bouzas AG . Anterior polar congenital cataract and corneal astigmatism. J Pediatr Ophthalmol Strabismus 1992;29:210–2.
Jaafar MS, Robb RM . Congenital anterior polar cataract: a review of 63 cases. Ophthalmology 1984;91:249–52.
Scott MH, Hejtmancik MD, Wozencraft MS, Reuter LM, Parks MM, Keiser-Kupfer MD . Autosomal dominant congenital cataract: interocular phenotypic variability. Ophthalmology 1994;101:866–71.
Author information
Authors and Affiliations
Additional information
Presented at the Oxford Congress, July 1996
Rights and permissions
About this article
Cite this article
Ionides, A., Berry, V., MacKay, D. et al. Anterior polar cataract: Clinical spectrum and genetic linkage in a single family. Eye 12, 224–226 (1998). https://doi.org/10.1038/eye.1998.53
Issue Date:
DOI: https://doi.org/10.1038/eye.1998.53