No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy.

Purpose: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) through screening of four positional candidate genes and the COL8A2 gene, in which a presumed pathogenic mutation has previously been identified in affected patients.

Methods: DNA extraction, PCR amplification, and direct sequencing of the COL8A2, BFSP1, CST3, MMP9, and SLPI genes were performed in 14 unrelated, affected patients and in unaffected family members.

Results: In the COL8A2 gene, the previously identified, presumed pathogenic mutation (Gln455Lys) was not discovered in any of the affected patients.

Jaw-winking ptosis in a patient with Kabuki syndrome.

We present a case of a child with Kabuki syndrome and jaw-winking ptosis. Kabuki syndrome is rare and consists of a constellation of findings including mental retardation, characteristic oculofacial features, and skeletal abnormalities. The association of Kabuki syndrome and jaw-winking ptosis has not been previously reported.