ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.

Abstract

Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes FOXC1 or PITX2. Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene ADAMTS18. This report describes the case of a boy with ADAMTS18-related ASD that was mistaken for Axenfeld-Rieger syndrome and highlights distinguishing features.