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Three cases of acute-onset bilateral photophobia

Ueno, Shinji ; Inooka, Daiki ; Meinert, Monika LU ; Ito, Yasuki ; Tsunoda, Kazushige ; Fujinami, Kaoru ; Iwata, Takeshi ; Ohde, Hisao and Terasaki, Hiroko (2019) In Japanese Journal of Ophthalmology 63(2). p.172-180
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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Acquired retinal disease, Incomplete-type congenital stationary night blindness, Negative-type ERG, Post-phototransduction abnormality
in
Japanese Journal of Ophthalmology
volume
63
issue
2
pages
172 - 180
publisher
Springer
external identifiers
  • pmid:30604114
  • scopus:85059585566
ISSN
0021-5155
DOI
10.1007/s10384-018-00649-0
language
English
LU publication?
yes
id
30502adc-59cb-4a6f-9d02-2183eb0dc9b4
date added to LUP
2019-01-23 07:58:43
date last changed
2021-01-19 02:32:08
@article{30502adc-59cb-4a6f-9d02-2183eb0dc9b4,
  abstract     = {<p>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 (&gt; 0.8) and Humphrey visual fields (mean deviation &gt; -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.</p>},
  author       = {Ueno, Shinji and Inooka, Daiki and Meinert, Monika and Ito, Yasuki and Tsunoda, Kazushige and Fujinami, Kaoru and Iwata, Takeshi and Ohde, Hisao and Terasaki, Hiroko},
  issn         = {0021-5155},
  language     = {eng},
  month        = {01},
  number       = {2},
  pages        = {172--180},
  publisher    = {Springer},
  series       = {Japanese Journal of Ophthalmology},
  title        = {Three cases of acute-onset bilateral photophobia},
  url          = {http://dx.doi.org/10.1007/s10384-018-00649-0},
  doi          = {10.1007/s10384-018-00649-0},
  volume       = {63},
  year         = {2019},
}