ABSTRACT
Gyrate chorioretinal atrophy (GCA) is a rare hereditary disease with certain complications; one extremely rare complication of GCA is foveoschisis. For the first time in Russian ophthalmology, a 10-year-old female child has been described to have genetically verified GCA associated with the OAT gene in combination with ornithinemia and foveoschisis. The diagnosis was made on the basis of fundus examination, perimetry data, autofluorescence, optical coherence tomography, fluorescence angiography, electroretinography, mass spectrometry with confirmation by molecular genetic research. The presented clinical case illustrates the need for an interdisciplinary approach to the diagnosis of GCA with diagnostic algorithm involving various examination methods and doctors of different specialties.
Subject(s)
Gyrate Atrophy , Retinoschisis , Child , Female , Humans , Gyrate Atrophy/etiology , Gyrate Atrophy/complications , Choroid/pathology , Retina/diagnostic imaging , Retina/pathology , Fluorescein Angiography , Retinoschisis/etiology , Retinoschisis/complications , AtrophyABSTRACT
PURPOSE: To assess the changes in photoreceptor retinal layers and the choroid in comparison with bioelectrical activity of the macula in patients with retinitis pigmentosa (RP). MATERIAL AND METHODS: The study included 10 patients (20 phakic eyes) with RP. Mean age was 27±18.5 years; mean best corrected visual acuity was 0.38±0.22. In addition to standard ophthalmological examination and fundus photography, each patient underwent an electrophysiological study on an electroretinograph MBN (Russia) recording general electroretinogram (ERG), maximal ERG (cone-rod response), 30 Hz flicker ERG and macular ERG (mERG). Choroidal thickness (CT) measurement and segmentation of the retina with following calculation of the thickness of different retinal layers was performed on SD-OCT RS-3000 Advance 'Nidek', Japan), it included obtainment of the 6-mm-diameter map in accordance with the Early Treatment Diabetic Retinopathy Study (ETDRS). RESULTS: The study revealed a decrease in thickness of the choroid, retina, and the photoreceptor layers: 1) the layer with photoreceptor outer segment (OS) and retinal pigment epithelium (RPE) and 2) the layer with photoreceptor inner segment (IS) and outer nuclear layer. Decreased thickness of these layers is associated with the reduction of bioelectric activity of the macula as seen with mERG. CONCLUSION: Decreased thickness of the retina, choroid and photoreceptor layers in all segments of the macula according to EDTRS standards is associated with reduced bioelectric activity of the macula recorded with mERG.
