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Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.

Jan-Philipp BodenbenderLeon BethgeKatarina StinglPascale MazzolaTobias HaackSaskia BiskupBernd WissingerNicole WeisschuhSusanne KohlLaura Kühlewein
Published in: American journal of ophthalmology (2024)
Our study confirms high phenotypic variability in disease onset and age at which legal blindness is reached in PRPF31-associated RP. Non-penetrance is commonly documented in family history, although poorly represented in our study, possibly indicating that true asymptomatic mutation carriers are rare if followed-up over lifetime with thorough ophthalmologic workup.
Keyphrases
  • gene expression
  • early onset
  • optical coherence tomography
  • dna methylation
  • optic nerve