December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Microphthalmia, Congenital Cataract, and Secondary Glaucoma in a Family
Author Affiliations & Notes
  • HV Tran
    New York Eye & Ear Infirmary New York NY and New York Medical College Valhalla NY
  • C Downs
    University of Michigan Ann Arbor MI
  • M Naganuma
    New York Eye & Ear Infirmary New York NY and New York Medical College Valhalla NY
  • R Park
    New York Eye & Ear Infirmary New York NY and New York Medical College Valhalla NY
  • B Chang
    New York Eye & Ear Infirmary New York NY and New York Medical College Valhalla NY
  • JM Liebmann
    New York Eye & Ear Infirmary New York NY and New York Medical College Valhalla NY
  • R Ritch
    New York Eye & Ear Infirmary New York NY and New York Medical College Valhalla NY
  • JE Richards
    University of Michigan Ann Arbor MI
  • Footnotes
    Commercial Relationships   H.V. Tran, None; C. Downs, None; M. Naganuma, None; R. Park, None; B. Chang, None; J.M. Liebmann, None; R. Ritch, None; J.E. Richards, None. Grant Identification: Support: NY Glaucoma Research Institute and NY Eye and Ear Infirmary, NY, NY.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 484. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      HV Tran, C Downs, M Naganuma, R Park, B Chang, JM Liebmann, R Ritch, JE Richards; Microphthalmia, Congenital Cataract, and Secondary Glaucoma in a Family . Invest. Ophthalmol. Vis. Sci. 2002;43(13):484.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose: To use data from a single large kindred to characterize the phenotype and map the gene responsible for autosomal dominant congenital cataract and microphthalmos with associated secondary glaucoma. Methods: A pedigree was constructed through interviews with the proband and his spouse. We performed ophthalmologic evaluations and obtained blood samples for linkage analysis from the proband, his wife and all 13 of their children. The presence of more than 11 informative meioses in this consanguineous family suggests that it could be useful in a linkage study. Results: The pedigree reveals three consanguineous matings including the proband and his wife; they have a kinship coefficient of 1/12 indicating that they have 17% of their genes in common (in comparison, siblings have 50% of their genes in common and first cousins have 6% of their genes in common). The proband and 9/13 children are affected with microphthalmia and congenital cataract. The proband and five of the affected children have secondary glaucoma, and one of the children has OHT. All the affected family members had bilateral cataract extraction prior to examination. Cataracts had central dense nuclear opacity without cortex involvement. Conclusion: In this family the combination of microphthalmia and congenital cataract is transmitted in an autosomal dominant fashion with a high level of penetrance and variable expression. Secondary glaucoma is present in 7/10 affected individuals. Progress will be presented on analysis of genome scan data and mapping of the gene responsible of this syndrome in this family.

Keywords: 418 gene mapping • 338 cataract • 420 genetics 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×