May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Clinical and Genetic Characteristics of a Japanese Family With Bilateral Microphathalmia, Cataract and the Absence of Pupil Formation
Author Affiliations & Notes
  • H. Kondo
    Department of Ophthalmology, Fukuoka Univ Sch of Medicine, Jonan-Ku, Japan
  • M. Qin
    Division of Genome Analysis, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
  • T. Tahira
    Division of Genome Analysis, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
  • E. Uchio
    Department of Ophthalmology, Fukuoka Univ Sch of Medicine, Jonan-Ku, Japan
  • K. Hayashi
    Division of Genome Analysis, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
  • Footnotes
    Commercial Relationships H. Kondo, None; M. Qin, None; T. Tahira, None; E. Uchio, None; K. Hayashi, None.
  • Footnotes
    Support None.
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 1314. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      H. Kondo, M. Qin, T. Tahira, E. Uchio, K. Hayashi; Clinical and Genetic Characteristics of a Japanese Family With Bilateral Microphathalmia, Cataract and the Absence of Pupil Formation. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1314. doi: https://doi.org/.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose:: To describe clinical and genetic characteristics of a Japanese family with microphathalmia, cataract, and the absence of pupil formation, which seemingly exhibited autosomal dominant mode of inheritance.

Methods:: Ocular examinations including slit-lamp microscopy, ultrasonography and utralsound biomicroscopy were performed in four patients within the three-generational family. A possible involvement of genes known to be related to either microphthalmia or anterior segment anomalies (CHX10, EYA1, FOXC1, GJA1, MAF, PAX6, SOX2, SOX11) was tested. Thirteen di-nucleotide repeats tightly linked to these genes were identified from the human genome sequence and used as markers in amplification and genotyping, followed by linkage analysis for seven members of the family.

Results:: Three affected members (one-year-old girl, five-year-old boy, and 34-year-old father) exhibited a uniform phenotype including no pupil formation with poorly developed iris stroma, calicified crystalline lens and microphthalmia bilaterally. The pupils were surgically constructed in four eyes of the siblings while the father remained to be untreated. Postoperatively the retina was found to be well developed in all treated eyes altough a total retinal detachment developed subsequenctly in one eye. The best-corrected visual acuities ranged from light perception to 0.2. A 65-year-old paternal grandmother had bilateral microphthalmia which become phthesical in the third decade. Genetic examination indicated that only one of eight genes (MAF) segregated concordantly with the disease.

Conclusions:: This is an ongoing project, and other genes interested are being searched for the segregation pattern. Exclusion of known genes related to these ocular conditions may help to identify disease-causing gene. The understanding of the pathogenesis of this disease will offer to proper genetic counseling.

Keywords: development • genetics • iris 
×
×

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.

×