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Cerebral visual impairment: genetic diagnoses and phenotypic associations.

Emogene ShawIan FlitcroftRichard BowmanKate Bakernull null
Published in: Journal of medical genetics (2024)
This study supports the availability of genetic testing for individuals with CVI alongside other neurodevelopmental difficulties. It also supports the availability of ophthalmological screening for individuals with genetic diagnoses linked to CVI. Further studies could elaborate on the links between specific genetic disorders, visual maturation and broader neurodevelopmental characteristics.
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • congenital heart disease
  • blood brain barrier