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X-linked retinoschisis: OCT-angiography in two brothers from a four-generation family with a p.Arg197Cys pathogenic variant in the RS1 gene.

Arturo CartaRoberta FarciMaria Silvana GalantuomoFossarello Maurizio
Published in: European journal of ophthalmology (2022)
OCTA data herein described allow a detailed morphological evaluation of XLRS other than a quantitative assessment of retinal capillary flow in this disease. The retinal alterations that we have reported may be helpful to better understand this rare condition with OCTA being a sensitive technique to monitor the evolution of the disease and the response to potential future therapeutic approaches aimed to restore vision.
Keyphrases
  • optical coherence tomography
  • diabetic retinopathy
  • optic nerve
  • computed tomography
  • genome wide
  • big data
  • current status
  • copy number
  • gene expression
  • dna methylation
  • risk assessment
  • human health