Novel DCN Mutation in Armenian Family With Congenital Stromal Corneal Dystrophy.
Dominic WilliamsDoug D ChungAnna HovakimyanAraks DavtyanBen J GlasgowAnthony J AldavePublished in: Cornea (2022)
We report only the sixth pedigree with genetically confirmed CSCD, associated with a novel DCN frameshift mutation. The clinical evaluation, multimodal imaging, and histopathologic assessment in this family with CSCD broaden our understanding of this rare corneal disease.