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Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19).

Kei MizobuchiTakaaki HayashiRyo OhiraTadashi Nakano
Published in: Documenta ophthalmologica. Advances in ophthalmology (2023)
Our findings revealed electroretinographic abnormalities in a patient with Alport syndrome, which predominantly indicated impairment of the inner retina. Notably, little short-term progression was observed.
Keyphrases
  • case report
  • single cell
  • diabetic retinopathy
  • optic nerve