Issue 6/2022

E. Mermeklieva
Clinic of ophthalmology, “Lozenetz” University hospital, Medical Faculty, Sofia University “St. Kliment Ohridski” – Sofia

Introduction: Hereditary retinal dystrophies (HRD) are a major part of the group so-called „rare eye diseases“. And although they are with a relatively low frequency in the human population, they are of а great social importance as cause severe visual impairment. They are a heterogeneous group of diseases, characterized by involvement of different retinal layers, most often the complex retinal pigment epithelium – photoreceptors and causing severe visual impairment – in the initial stages loss of night vision, visual field, color vision and visual acuityand leading to progressive and severe loss of visual function by altering the retinal anatomy and function. Objective: To present the modern diagnostic and therapeutic methods that provide accurate diagnosis and a proper therapeutic approach in hereditary retinal dystrophies. Methods and results: The development of medical science and technology has led to the introduction of new, increasingly sophisticated methods for early diagnosis of these diseases – the electrophysiological studies have become more complex and informative. Together with computer automated perimetry, optical coherence tomography (OCT), angioOCT, fluorescein angiography, fundus autofluorescence and adaptive optics, they allow very accurate topographical localization of the defect. And together with the advances in genetics, optogenetics, molecular biology, retinal biochemistry and regenerative medicine, they provide a better understanding of the mechanism of these diseases and increase the therapeutic opportunities. Conclusion: In-depth clinical, electrophysiological and genetic testing of patients with hereditary retinal dystrophies is essential for the correct differentiation of the different nosological unitsand prerequisite for selecting appropriate therapeutic aproach.

Address for correspondence:
E. Mermeklieva 
Clinic of Ophthalmology, University Hospital „Lozenets“
MF at Sofia University „St. Kliment Ohridski ”- Sofia 
1, Koziak, Str.
1407, Sofia, Bulgaria