Mosaic Chromosome 18q Partial Deletion Syndrome with Bilateral Full-thickness Corneal Disease: Surgical Intervention and Histopathology

Abstract A 2-month-old boy diagnosed with a mosaic chromosome 18q partial deletion syndrome was referred for bilateral cloudy corneas. The abnormal metaphases had a terminal deletion of the long arm of chromosome 18 as clonal abnormality. The cytogenetics findings were 46,XY, del (18)(q21.2)[12]/46,...

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Published in:Ophthalmic genetics 2015-03, Vol.36 (1), p.75-78
Main Authors: Galvin, Jennifer A., LeBoyer, Russell M., Michelotti, Monica, Monte, Monte A. Del, Elner, Victor M., Mian, Shazad I.
Format: Article
Language:English
Subjects:
Bowman Membrane - pathology
Chromosome Deletion
Chromosome Disorders - genetics
Chromosomes, Human, Pair 18 - genetics
Corneal Diseases - diagnosis
Corneal Diseases - genetics
Corneal Diseases - surgery
Corneal Neovascularization - genetics
Corneal Neovascularization - pathology
Corneal Stroma - blood supply
Endothelium, Corneal - pathology
Epithelium, Corneal - pathology
Humans
In Situ Hybridization, Fluorescence
Infant
Keratoplasty, Penetrating
Male
Mosaicism
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Summary:Abstract A 2-month-old boy diagnosed with a mosaic chromosome 18q partial deletion syndrome was referred for bilateral cloudy corneas. The abnormal metaphases had a terminal deletion of the long arm of chromosome 18 as clonal abnormality. The cytogenetics findings were 46,XY, del (18)(q21.2)[12]/46,XY[20]. Ocular findings included bilateral microcornea with dense opacification and unilateral iris and chorioretinal coloboma. Penetrating keratoplasty (PK) was performed on both eyes. Histopathology of the host corneal button showed complete loss of Bowman's layer, hyperkeratosis of the epithelium, stromal neovascularization, and leukocyte infiltration. Descemet's membrane and endothelium were irregular in both specimens. CD45 stain for leukocytes confirmed perivascular and epithelial leukocytes infiltration. Mosaic chromosome 18q deletion syndrome is a rare genetic abnormality with a variable phenotype - including ocular findings - and hence, warrants an ophthalmic evaluation and genetic counseling.
ISSN:1381-6810
1744-5094
DOI:10.3109/13816810.2013.833633