Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.

Takaaki Hayashi Kei MizobuchiShinsuke KikuchiTadashi Nakano

Published in: Documenta ophthalmologica. Advances in ophthalmology (2020)

This is the oldest reported patient with complete CSNB and biallelic TRPM1 variants. Our ophthalmic findings suggest that some patients with TRPM1-related CSNB may exhibit preserved retinal function later in life.

Keyphrases

case report
copy number
intellectual disability
optical coherence tomography
diabetic retinopathy
autism spectrum disorder
middle aged
mass spectrometry
depressive symptoms
optic nerve