Long-term follow-up of retinal function and structure in trpm1-associated complete congenital stationary night blindness

Research output: Contribution to journalArticle


Purpose: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified. In addition, we describe retinal function and structure in two other siblings with the novel homozygous c.1394T>A (p.Met465Lys) missense mutation. Methods: Clinical examination included full-field electroretinography, axial length measurements, and multimodal retinal imaging. Molecular genetic tests included next-generation sequencing and Sanger sequencing. Results: All patients had non-recordable rod responses and electronegative configuration of the rod-cone responses at presentation. There was a median of 26% reduction in the dark-and light-adapted electroretinographic (ERG) amplitudes over 4 years. Myopia progressed rapidly in childhood but showed only a mild progression after the teenage years. Visual acuities were stable over time, and there was no sign of progressive retinal thinning. All patients had axial myopia. A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in TRPM1 was identified in two siblings. Conclusions: Further prospective study in larger samples is needed to establish whether there is progressive retinal degeneration in TRPM1-associated CSNB. The associated myopia was found to be mainly axial, which has not been described previously. The mechanism of myopia development in this condition remains incompletely understood; however, it may be related to altered retinal dopamine signaling and amacrine cell dysfunction.


  • Haneen Al-Hujaili
  • Ibrahim Taskintuna
  • Christine Neuhaus
  • Carsten Bergmann
  • Patrik Schatz
External organisations
  • King Khaled Eye Specialist Hospital
  • Albert-Ludwigs University Freiburg
  • Skåne University Hospital
  • Bioscientia Institut für Medizinische Diagnostik GmbH
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology
Original languageEnglish
Pages (from-to)851-858
JournalMolecular Vision
Publication statusPublished - 2019
Publication categoryResearch