Preferred Label : Congenital corneal opacities, cornea guttata, and corectopia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Corneal opacities, congenital, with cornea guttata and corectopia;
Description : 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 (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 anomaly
(180500). Cornea guttata, present in both mother and son, had not been reported in
Peters anomaly or Axenfeld-Rieger anomaly. Autosomal dominant inheritance was suggested.
*FIELD* RF 1. Hwang, J-M.; Chung, D. C.; Traboulsi, E. I.: A new syndrome of hereditary
congenital corneal opacities, cornea guttata, and corectopia. Arch. Ophthal. 121:
1053-1054, 2003. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 608484;
Origin ID : 608484;
UMLS CUI : C1837970;
Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- Not associated HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
