Posterior amorphous corneal dystrophy caused by a de novo deletion.
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.
a Department of Ophthalmology , KU Leuven - University of Leuven , Leuven , Belgium.
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Odent
a Department of Ophthalmology , KU Leuven - University of Leuven , Leuven , Belgium.
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Casteels
a Department of Ophthalmology , KU Leuven - University of Leuven , Leuven , Belgium.
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Cassiman
a Department of Ophthalmology , KU Leuven - University of Leuven , Leuven , Belgium.
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Dieltiëns
a Department of Ophthalmology , KU Leuven - University of Leuven , Leuven , Belgium.
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Hua
b Department of Genetics , KU Leuven - University of Leuven , Leuven , Belgium.
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Devriendt
D000328:Adult; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis; D000071232:Small Leucine-Rich Proteoglycans / Q000235:genetics*
D000071232:Small Leucine-Rich Proteoglycans
Chromosome 12; de novo deletion; pediatric ophthalmology; posterior amorphous corneal dystrophy; small leucine-rich proteoglycans