Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency
JOURNAL OF AAPOS, cilt.19, sa.1, ss.80-82, 2015 (SCI-Expanded, Scopus)
- 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.