Three cases of acute-onset bilateral photophobia

Research output: Contribution to journalArticle

Abstract

Purpose: To report the findings in 3 cases of bilateral negative electroretinograms (ERGs) with acute onset of photophobia. Study design: Retrospective case series. Methods: The medical charts of the 3 patients were reviewed. Results: A 43-year-old woman, a 68-year-old woman, and a 41-year-old woman were referred to Nagoya University Hospital. Their main symptom was bilateral acute photophobia. None of the patients had any systemic diseases or specific medical history. The decimal best-corrected visual acuity (> 0.8) and Humphrey visual fields (mean deviation > -3 dB) were relatively well preserved in all 3 patients. The optical coherence tomography (OCT) and fundus autofluorescence findings were essentially normal. Fluorescein angiography showed mild leakage in 1 patient but no abnormality in the other 2 patients. However, the ERGs of the 3 patients had the features of abnormal ERGs found in patients with incomplete congenital stationary night blindness (CSNB). Exome analyses found no pathogenic variants related to known CSNB-related genes. The symptoms and ERGs of the 3 patients have not progressed or recovered after a relatively long follow-up period. Conclusion: The ERG characteristics of 3 patients with bilateral photophobia were similar to those of incomplete CSNB, suggesting post-phototransductional abnormalities. The symptoms and genetic analyses indicated the possibility of an acquired condition rather than a hereditary retinal disease.

Details

Authors
  • Shinji Ueno
  • Daiki Inooka
  • Monika Meinert
  • Yasuki Ito
  • Kazushige Tsunoda
  • Kaoru Fujinami
  • Takeshi Iwata
  • Hisao Ohde
  • Hiroko Terasaki
Organisations
External organisations
  • Nagoya University
  • National Hospital Organization, Japan
  • Keio University
  • University College London
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology

Keywords

  • Acquired retinal disease, Incomplete-type congenital stationary night blindness, Negative-type ERG, Post-phototransduction abnormality
Original languageEnglish
Pages (from-to)172-180
JournalJapanese Journal of Ophthalmology
Volume63
Issue number2
Early online date2019 Jan 2
Publication statusPublished - 2019
Publication categoryResearch
Peer-reviewedYes