Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency

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

JOURNAL OF AAPOS, cilt.19, sa.1, ss.80-82, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.jaapos.2014.09.014
  • Dergi Adı: JOURNAL OF AAPOS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.80-82
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.