December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning (EDICT) Syndrome Maps to Chromosome 15q15-q25
Author Affiliations & Notes
  • DV Do
    Ophthalmology The Johns Hopkins Hospital - The Wilmer Eye Institute Baltimore MD
  • AS Jun
    Ophthalmology The Johns Hopkins Hospital - The Wilmer Eye Institute Baltimore MD
  • KW Broman
    Biostatistics The John Hopkins University - Bloomberg School of Public Health Baltimore MD
  • EK Akpek
    Ophthalmology The Johns Hopkins Hospital - The Wilmer Eye Institute Baltimore MD
  • WJ Stark
    Ophthalmology The Johns Hopkins Hospital - The Wilmer Eye Institute Baltimore MD
  • JD Gottsch
    Ophthalmology The Johns Hopkins Hospital - The Wilmer Eye Institute Baltimore MD
  • Footnotes
    Commercial Relationships   D.V. Do, None; A.S. Jun, None; K.W. Broman, None; E.K. Akpek, None; W.J. Stark, None; J.D. Gottsch, None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 1728. doi:
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      DV Do, AS Jun, KW Broman, EK Akpek, WJ Stark, JD Gottsch; Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning (EDICT) Syndrome Maps to Chromosome 15q15-q25 . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1728.

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

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Abstract

Abstract: : Purpose: To localize a gene causing a newly-described, autosomal dominant, anterior segment dysgenesis affecting a three-generation pedigree characterized by corneal Endothelial Dystrophy, Iris hypoplasia, congenital Cataracts, and corneal stromal Thinning (EDICT syndrome). Method: Ophthalmologic examination consisting of slit-lamp examination, corneal topography, pachymetry, and specular biomicroscopy was performed on all family members. One excised corneal button underwent histopathologic and ultrastructural evaluation. A set of microsatellite markers spanning the genome was used to perform linkage analysis on eight affected and six unaffected individuals within a single family. Results: Affected family members demonstrated an anterior segment dysgenesis with bilateral corneal steepening and thinning, microcornea, endothelial abnormalities resembling posterior polymorphous dystrophy and Fuchs' dystrophy, iris hypoplasia, and congenital anterior polar cataracts. Haplotype analysis places the disease gene on chromosome 15q15-25 between markers D15S993 and D15S979. Conclusion: The clinical findings of corneal endothelial dystrophy, iris hypoplasia, congenital cataracts, and corneal stromal thinning establish the EDICT syndrome as a unique, autosomal dominant anterior segment dysgenesis. Initial linkage analysis localized the disease gene to a region on chromosome 15q15-25 between markers D15S993 and D15S979, which represents a novel locus. Identification of the disease-causing gene is underway and may yield insights into a broad range of disorders affecting the development and function of the corneal, iris, and lens.

Keywords: 318 anterior segment • 371 cornea: endothelium • 420 genetics 
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