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Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

Christos IosifidisJingshu LiuTheodora GaleJamie M EllingfordChristopher CampbellStuart IngramKate ChandlerNeil R A ParryGraeme C BlackPanagiotis I Sergouniotis
Published in: Acta ophthalmologica (2022)
Our findings highlight the importance of comprehensive genomic analysis, beyond the exons and protein-coding regions of genes, for individuals with CSNB. When this characteristic retinal phenotype is accompanied by extraocular findings (including learning and/or behavioural difficulties), a 15q13.3 microdeletion should be suspected. Focused analysis (e.g. microarray testing) is recommended to look for large-scale deletions encompassing TRPM1 in patients with CSNB and neurodevelopmental abnormalities.
Keyphrases
  • genome wide
  • pulmonary embolism
  • diabetic retinopathy
  • gene expression
  • copy number
  • protein protein
  • physical activity
  • depressive symptoms
  • small molecule
  • optic nerve
  • data analysis