Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy

Research output: Contribution to journalArticle


Purpose: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges. Next-generation sequencing of a retinal dystrophy gene panel revealed a heterozygous deletion c.485delC (p.Pro162G.Infs*24) in exon 5 of OTX2. Conclusions: This second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy.


  • Maram E.A. Abdalla-Elsayed
  • Patrik Schatz
  • Christine Neuhaus
  • Arif O. Khan
External organisations
  • Jeddah Eye Hospital
  • King Khaled Eye Specialist Hospital
  • Bioscientia Institut für Medizinische Diagnostik GmbH
  • Cleveland Clinic Abu Dhabi
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology
Original languageEnglish
Pages (from-to)778-784
Number of pages7
JournalMolecular Vision
Publication statusPublished - 2017 Nov 13
Publication categoryResearch