Posterior amorphous corneal dystrophy caused by a de novo deletion

ABSTRACT

We present a newborn diagnosed with posterior amorphous corneal dystrophy (PACD). PACD is a rare disorder with partial or complete posterior lamellar corneal opacification. Genetic screening showed a deletion of chromosome 12q21.33-q22 containing the identified four small leucine-rich proteoglycans (SLRP’s) associated with this particular dystrophy. Neither parents were carrier of the deletion. To our knowledge, this is the first report of a de novo mutation causing PACD.

KEYWORDS:

• Chromosome 12
• de novo deletion
• pediatric ophthalmology
• posterior amorphous corneal dystrophy
• small leucine-rich proteoglycans

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.