One Family of Aniridia.
- Author:
Young Ja HWANG
1
;
Byong Ho KIM
;
Hyun Bong BAE
;
Wan Seop SHIM
Author Information
- Publication Type:Case Report
- MeSH: Aniridia*; Cataract; Chungcheongnam-do; Ectoderm; Ectopia Lentis; Glaucoma; Humans; Intraocular Pressure; Iris; Mothers; Nuclear Family; Penetrance; Phenotype; Retinaldehyde; Trabeculectomy; Vision Disorders
- From:Journal of the Korean Ophthalmological Society 1980;21(3):255-259
- CountryRepublic of Korea
- Language:Korean
- Abstract: Aniridia is a congenital lack of iris and rudimentary iris tissue, almost always bilateral, occuring as a dominant characteristic by an autosomal gene with high penetrance and variable expression. The syndrome of congenital aniridia may be composed of four phenotypes. The authors have experienced one an iridic family: mother, one daughter and four sons. The most family members have ectopia lentis. cataract. corneal pannus and glaucoma as well as aniridia, so they were expected the first phenotype of aniridia due to a failure in development of retinal ectoderm. Two sons of them were operated in Chungnam National University Hospital for control of glaucoma and visual impairment due to cataractous ectopic lens. In one case the intraocular pressure was not controlled after trabeculectomy and in another case lens extraction resulted in visual improvement. The review was made of relating literatures for the case of aniridia family, breifly.
