A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.

Rocío Arce-GonzálezOscar Francisco Chacon-CamachoVianey Ordoñez-LabastidaEnrique O Graue-HernandezAlejandro Navas-PérezJuan Carlos Zenteno Ruiz

Published in: International ophthalmology (2022)

Our results expand the mutational spectrum associated with brittle cornea syndrome and provide the first demonstration of early corneal anomalies in subjects carrying monoallelic ZNF469 variants.

Keyphrases

optical coherence tomography
case report
wound healing
early onset
copy number
gene expression
cataract surgery
genome wide