Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency

TAYLAN ŞEKEROĞLU H., ÖZTÜRK HİŞMİ B., KADAYIFÇILAR S., COŞKUN T.

JOURNAL OF AAPOS, vol.19, no.1, pp.80-82, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 1
  • Publication Date: 2015
  • Doi Number: 10.1016/j.jaapos.2014.09.014
  • Journal Name: JOURNAL OF AAPOS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.80-82
  • Hacettepe University Affiliated: Yes

Abstract

We report the autofluorescence pattern and optical coherence tomography (OCT) characteristics in a 6-year-old boy with glutathione synthetase deficiency. The patient underwent complete ophthalmological examination, including full-field electroretinography, visual evoked potentials, fundus autofluorescence, and OCT imaging. Electrophysiological studies showed time-delay and subnormal responses. Fundus autofluorescence imaging revealed increased parafoveal autofluorescence compared to normal, and OCT showed alteration of photoreceptor and retinal pigment epithelium layers in the parafoveal region.