Long-term follow-up of PRPH2-associated retinal dystrophy.

Zhanlin ZhaoAlexandra MiereHoang Mai LEEric H Souied

Published in: Retinal cases & brief reports (2022)

This report demonstrated the thirteen-year progression of MPDSFF in a patient with a pathogenic variant of the PRPH2/RDS gene (NM_000322.4:c.421T>C (p.Tyr141His)).

Keyphrases

optical coherence tomography
case report
diabetic retinopathy
photodynamic therapy
early onset
copy number
genome wide
genome wide identification
optic nerve
gene expression
genome wide analysis
transcription factor
light emitting