Posterior amorphous corneal dystrophy caused by a de novo deletion

Ophthalmic Genet. 2017 Mar-Apr;38(2):167-170. doi: 10.3109/13816810.2016.1164194. Epub 2016 Apr 20.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 12*
  • Comparative Genomic Hybridization
  • Corneal Dystrophies, Hereditary / diagnosis
  • Corneal Dystrophies, Hereditary / genetics*
  • Female
  • Humans
  • Infant
  • Oligonucleotide Array Sequence Analysis
  • Small Leucine-Rich Proteoglycans / genetics*

Substances

  • Small Leucine-Rich Proteoglycans

Supplementary concepts

  • Corneal Dystrophy, Posterior Amorphous