Anterior polar cataract: clinical spectrum and genetic linkage in a single family.

作者: Alexander Ionides , Vanita Berry , Donna MacKay , Alan Shiels , Shomi Bhattacharya

DOI: 10.1038/EYE.1998.53

关键词: SurgeryLens (anatomy)Anterior polar cataractEye diseaseChromosome 17 (human)Single familyGenetic linkageMedicineVisual acuityOphthalmologyMinimal effect

摘要: Anterior polar cataract can occur as a sporadic finding, in association with other ocular abnormalities or an inherited, autosomal dominant disorder. We have demonstrated linkage family anterior to the short arm of chromosome 17, locating gene region 17p12-13. All affected members this large had opacity at pole lens that varied only size and effect on visual acuity. is thought minimal acuity although there was high incidence unilateral amblyopia.

参考文章(14)
Andreas G Bouzas, Anterior polar congenital cataract and corneal astigmatism. Journal of Pediatric Ophthalmology & Strabismus. ,vol. 29, pp. 210- 212 ,(1992) , 10.3928/0191-3913-19920701-05
Mohammad S. Jaafar, Richard M. Robb, Congenital Anterior Polar Cataract Ophthalmology. ,vol. 91, pp. 249- 254 ,(1984) , 10.1016/S0161-6420(84)34297-X
J F Hejtmancik, R Ayyagari, G N Rao, M Kaiser-Kupfer, S Basti, T Fletcher, J S Murty, T Padma, Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. American Journal of Human Genetics. ,vol. 57, pp. 840- 845 ,(1995)
Jules François, Genetics of cataract. Ophthalmologica. ,vol. 184, pp. 61- 71 ,(1982) , 10.1159/000309186
Mark H. Scott, J. Fielding Hejtmancik, Laura A. Wozencraft, Leanne M. Reuter, Marshall M. Parks, Muriel I. Kaiser-Kupfer, Autosomal Dominant Congenital Cataract: Interocular Phenotypic Variability Ophthalmology. ,vol. 101, pp. 866- 871 ,(1994) , 10.1016/S0161-6420(94)31246-2
Marlene M. Armitage, Jane D. Kivlin, Robert E. Ferrell, A progressive early onset cataract gene maps to human chromosome 17q24 Nature Genetics. ,vol. 9, pp. 37- 40 ,(1995) , 10.1038/NG0195-37
N. H. Lubsen, J. H. Renwick, L. C. Tsui, M. L. Breitman, J. G. Schoenmakers, A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family Proceedings of the National Academy of Sciences of the United States of America. ,vol. 84, pp. 489- 492 ,(1987) , 10.1073/PNAS.84.2.489
Hans Eiberg, Allan Meldgaard Lund, Mette Warburg, Thomas Rosenberg, Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Human Genetics. ,vol. 96, pp. 33- 38 ,(1995) , 10.1007/BF00214183
Hans Eiberg, Else Marner, Thomas Rosenberg, Jan Mohr, Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clinical Genetics. ,vol. 34, pp. 272- 275 ,(2008) , 10.1111/J.1399-0004.1988.TB02875.X
Ruud H. Brakenhoff, Hans A.M. Henskens, Maarten W.P.C.van Rossum, Nicolette H. Lubsen, John G.G. Schoenmakers, Activation of the ΓE-crystallin pseudogene in the human hereditary Coppock-like cataract Human Molecular Genetics. ,vol. 3, pp. 279- 283 ,(1994) , 10.1093/HMG/3.2.279