Posterior amorphous corneal dystrophy caused by a de novo deletion. (4th March 2017)

• Record Type: Journal Article
• Authors: Odent, S.; Casteels, I.; Cassiman, C.; Dieltiëns, M.; Hua, M.-T.; Devriendt, K.
• Is Part Of: Ophthalmic genetics. Volume 38:Number 2(2017)
• Page Start: 167
• Page End: 170
• Publication Date: 2017-03-04
• Subjects: Chromosome 12 -- de novo deletion -- pediatric ophthalmology -- posterior amorphous corneal dystrophy -- small leucine-rich proteoglycans; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2016.1164194
• Languages: English
• ISSNs: 1381-6810

Abstract

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.