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Review Article. Role of Electrophysiological Methods in Diagnosis of Hereditary Retinal Dystrophies

Elena Mermeklieva

Abstract: The aim of the study is to present the different electrophysiological methods (EF) for study the retinal function and to highlight their importance in the diagnosis of hereditary retinal dystrophies (HRDs). EF methods are objective methods including the different types of electroretinography (ERG) and electrooculography (EOG). They are “the golden standard” in the diagnosis of retinal dystrophies. EF are especially valuable in the initial stages of the diseases and in asymptomatic forms. They are also particularly important for monitoring the changes in dynamics, which is very important for the diseases prognosis. HRDs are a heterogeneous group of diseases with a relatively low frequency in the human population, characterized by involvement of different retinal layers, most often the complex retinal pigment epithelium-photoreceptors and causing severe visual impairment - loss of night vision, visual field, color vision and visual acuity in the initial stages and leading to progressive and severe loss of visual function by altering the retinal anatomy and function. By EF studies can evaluate the function of the retina in patients with these “rare eye diseases”. EF methods are most important in the diagnosis of HRDs. They are also important in the differential diagnosis between the different retinal dystrophies. A major challenge for the ophthalmologists is to identify the diseases in the early stages. There is an urgent need for more knowledge and practical use of these methods for accurate diagnosis which is a prerequisite for a proper therapy.
Keywords: vision / loss / Electrophysiological / importance in the diagnosis / function / hereditary / retinal dystrophies

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