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Novel DCN Mutation in Armenian Family With Congenital Stromal Corneal Dystrophy.

Dominic WilliamsDoug D ChungAnna HovakimyanAraks DavtyanBen J GlasgowAnthony J Aldave
Published 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.
Keyphrases
  • clinical evaluation
  • optical coherence tomography
  • wound healing
  • high resolution
  • bone marrow
  • early onset
  • pain management
  • mass spectrometry