OMIM ID:
EDICT Syndrome
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
This is a rare disorder with multiple anterior segment anomalies. The corneal stroma is thinned in the range of 330 to 460 µm with uniform steepening (no cone). The epithelium may be irregular and edematous, the stroma is diffusely hazy, and the endothelium is irregular with many guttae. Anterior polar cataracts are likely congenital and often require removal before the age of 20 years. The pupils are often eccentric and difficult to dilate. The iris stroma may appear atrophic. Visual acuity, even in the aphakic condition, is in the range of 20/30 to 20/160.
Histological studies show attenuation of the endothelium with cellular overlapping and aggregates of fibrillar material that stains for cytokeratin. Descemet membrane is thickened as is the epithelial basement membrane and both intracellular and extracellular lipid deposition is seen throughout the stroma and the Bowman membrane.
Systemic Features
No systemic abnormalities have been reported.
Genetics
Inheritance
This is an autosomal dominant disorder resulting from a heterozygous single base substitution (57C-T) in the MIR184 gene (15q25.1).
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission