Genetics of congenital corneal opacification affect diagnosis and treatment

Traditionally, the causes of congenital corneal opacities have been recalled using the pneumonic “STUMPED,” but as our understanding of phenotype has improved with better anterior segment imaging, it has become increasingly clear that the early genotype-phenotype correlations were largely misled by inaccurate phenotyping.Recently, a novel classification for neonatal corneal opacification was published from our group (Table). Using this, corneal opacification can be considered to be primary or secondary. Secondary corneal disease may be developmental or acquired.