Congenital Corneal Opacities, Cornea Guttata, And Corectopia

Clinical Features

Hwang et al. (2003) described a mother and son with a seemingly distinct syndrome of congenital bilateral superior full-thickness V-shaped corneal opacities, cornea guttata (focal accumulations of collagen on the posterior surface of Descemet membrane), and corectopia (updrawn pupils). The phenotype overlapped that of Peters anomaly (see 604229), which is usually a sporadic condition characterized by central corneal opacity and defects in the corneal endothelium, Descemet membrane, and posterior stroma. Glaucoma was not present in the mother or son, nor did they have posterior embryotoxon, iris stromal hypoplasia, or polycoria, all of which are found in Axenfeld/Rieger anomalies (see 601631). Cornea guttata, present in both mother and son, had not been reported in Peters anomaly or Axenfeld/Rieger anomalies. Autosomal dominant inheritance was suggested.