Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency.
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.
Department of Ophthalmology, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey. Electronic address: h_taylan@yahoo.com.
Hande Taylan
HT
Şekeroğlu
Division of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
Burcu
B
Hismi
Department of Ophthalmology, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
Sibel
S
Kadayifcilar
Division of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
Turgay
T
Coskun
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D003241:Consanguinity; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005981:Glutathione Synthase / Q000172:deficiency*; D006801:Humans; D008297:Male; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis* / Q000503:physiopathology; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D042262:Retinoscopy; D041623:Tomography, Optical Coherence
D005981:Glutathione Synthase