Morphological and functional indicators of retinal pigment epithelium and photoreceptor apparatus in inherited retinal diseases

PURPOSE To evaluate the relationship between the morphological and functional parameters of retinal pigment epithelium (RPE) and photoreceptors (PR) in inherited retinal diseases (IRD). MATERIAL AND METHODS The study included 52 patients (104 eyes), 23 of them with Stargardt Disease (STGD), 19 with cone-rod dystrophy (CRD), 10 with retinitis pigmentosa/pigmentary abiotrophy (RP) of comparable disease durations. All patients underwent standard and additional ophthalmological examination: fundus autofluorescence (AF), spectral optical coherence tomography (OCT), computer perimetry (CP), electro-oculography (EOG), Ganzfeld electroretinography (gERG). RESULTS Comparison of the groups of IRD patients and groups according to the degree of RPE damage with the control group revealed an increase in differences in the EOG and gERG indicators as the area and depth of damage to the RPE and PR progressed. The patterns of changes in RPE and PR, the frequency of their occurrence with IRD in this patient sample are described. A moderate correlation was found between the amount of RPE loss and EOG light rise, as well as between the defect of the ellipsoid zone and the amplitude of α- and β-waves, the latency of β-wave of the gERG. Some patients showed a mismatch between a small defect of the ellipsoid zone and RPE with significant damage to the visual field and reduction of the EOG and gERG indicators. The obtained electrophysiological indicators revealed pathological changes in RPE and PR, more significant and widespread in some cases than it was shown with visualization methods. Weak and moderate correlations between visual acuity, and RPE damage and light sensitivity index with loss of ellipsoid zone were calculated. CONCLUSIONS Modern methods of retinal examination can help obtain complete and versatile picture of morphological and functional state of the retina in IDR that supplement each other. EOG and gERG have capability to determine the degree of RPE and PR functions impairment including those cases when morphological studies are not sufficiently informative.