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.

• Authors: S Odent, I Casteels, C Cassiman, M Dieltiëns, M-T Hua, K Devriendt
• Journal: Ophthalmic genetics (Ophthalmic Genet) 2017 Mar-Apr Vol. 38 Issue 2 Pg. 167-170 ISSN: 1744-5094 [Electronic] England
• PMID: 27096414 (Publication Type: Case Reports, Journal Article)

Chemical References

• Small Leucine-Rich Proteoglycans

Topics

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