Purpose: To describe the ocular features of a patient with an interstitial deletion of chromosome 12 and to determine the molecular boundaries of the deletion.
Design: Observational case report and laboratory investigation.
Methods: A patient with an interstitial deletion of chromosome 12 was clinically examined for ocular abnormalities. DNA samples were used for molecular studies to define the deletion boundaries.
Results: Ocular examination showed abnormalities of the anterior segment consistent with a diagnosis of cornea plana. Molecular analyses showed the deletion included the KERA gene, the SLRP (small leucine repeat protein) gene cluster, the genetic loci for autosomal-dominant (CNA1) and autosomal-recessive (CNA2) cornea plana, and a portion of the mapped locus for high myopia (MYP3).
Conclusions: These results, combined with previous genetic linkage studies, identifies a 3-cM region located between microsatellite markers D12S82 and D12S351 that is likely to contain a gene responsible for CNA1.