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Michelle Jang, Ashley Roldan, Ricardo Frausto, Anthony Aldave; Posterior Polymorphous Corneal Dystrophy 3 Associated with Agenesis of the Corpus Callosum. Invest. Ophthalmol. Vis. Sci. 2013;54(15):4729.
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© ARVO (1962-2015); The Authors (2016-present)
To report two cases of agenesis of the corpus callosum (ACC) associated with posterior polymorphous corneal dystrophy 3 (PPCD3).
Slit lamp examination and DNA collection for screening of the ZEB1 gene were performed for members of two families with individuals previously diagnosed with posterior polymorphous corneal dystrophy.
The proband of the first family was diagnosed shortly after birth with ACC and associated colpocephaly. She was subsequently diagnosed with PPCD, prompting screening of the ZEB1 gene, which identified a novel deletion (c.449delG; (Gly150Alafs*36)) present in the heterozygous state that was not identified in either unaffected parent. The proband of the second family was also diagnosed with ACC and PPCD. Karyotype analysis revealed a partial duplication within a region of chromosome 17 that has previously been associated with ACC. ZEB1 sequencing identified a novel deletion (c.1913-1914delCA; p.(Ser638Cysfs*5)) present in the heterozygous state, which was also identified in the proband’s affected mother.
Posterior polymorphous corneal dystrophy has previously been described in association with a number of other ocular and extraocular abnormalities. We report the first association of PPCD with a developmental abnormality of the brain, in this case PPCD3 associated with agenesis of the corpus callosum.
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