Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19).
Kei MizobuchiTakaaki HayashiRyo OhiraTadashi NakanoPublished 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.