Abstract
Purpose:
To report two cases of agenesis of the corpus callosum (ACC) associated with posterior polymorphous corneal dystrophy 3 (PPCD3).
Methods:
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.
Results:
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.
Conclusions:
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.
Keywords: 481 cornea: endothelium •
612 neuro-ophthalmology: diagnosis