Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3

Am J Ophthalmol. 2002 Aug;134(2):172-6. doi: 10.1016/s0002-9394(02)01401-0.


Purpose: To localize a gene causing a newly described autosomal dominant anterior segment dysgenesis characterized by corneal endothelial dystrophy, iris hypoplasia, congenital cataracts, and corneal stromal thinning (EDICT syndrome).

Design: Experimental study.

Methods: A set of microsatellite markers spanning the 22 human autosomes was used to perform linkage analysis on affected and unaffected individuals within a single family.

Results: Linkage analysis of the anterior segment dysgenesis endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome in this family revealed a logarithm of the odds (LOD) score of 2.71 on chromosome 15q22.1-25.3 between markers D15993 and D15S202. These results suggest a gene for EDICT syndrome lies in this chromosomal region.

Conclusions: A LOD score of 2.71 suggests a novel locus associated with the newly described EDICT syndrome lies in a region of chromosome 15 between markers D15S993 and D15S202. Identification of the disease-causing gene in this region may yield insights into a broad range of disorders affecting the corneal stroma, endothelium, iris, and lens.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Anterior Eye Segment / abnormalities*
  • Cataract / congenital*
  • Cataract / genetics
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 15 / genetics*
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / pathology
  • Corneal Stroma / pathology
  • Endothelium, Corneal / pathology
  • Eye Abnormalities / genetics*
  • Female
  • Genetic Linkage / genetics*
  • Humans
  • Iris / abnormalities
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Syndrome