LAUSR

Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant inherited disease that usually develops in the second and third decades of life and triggers bilateral endothelial abnormalities. It is known that PPCD is typically not progressive and does not cause corneal decompensation. However, in rare cases, it can be progressive and cause congenital corneal decompensation, especially in PPCD1. In addition, it rarely accompanies iris corneal adhesion and glaucoma. PPCD triggers changes in the corneal endothelium with respect to the vesicle, band, or opacity. Among these, the band-type lesion is characterized by a “rail road track”-like appearance where the ends do not meet. According to the recently published the IC3D Classification of Corneal Dystrophy, PPCD can be categorized into three subtypes. The genes VSX-1, COL8A2, and ZEB1 have been found to be linked to PPCD (1). In Korea, PPCD cases with mutations in the COL8A2 and VSX1 genes have been reported in three patients to date (2). Here, we report an extremely early-onset, unilateral case of a six-year-old child diagnosed with PPCD3 who demonstrated a novel variant (c.1356_1357dup) in the ZEB1 gene.