Zusammenfassung
Understanding the genetic causes of monogenic and complex retinal degenerations is crucial in elucidating the basic physiological processes involved in the development of the respective disease. Building upon such an insight will enable the development of therapies precisely tailored to patients. This review summarizes the present state of knowledge on the genetics of hereditary retinal ...
Zusammenfassung
Understanding the genetic causes of monogenic and complex retinal degenerations is crucial in elucidating the basic physiological processes involved in the development of the respective disease. Building upon such an insight will enable the development of therapies precisely tailored to patients. This review summarizes the present state of knowledge on the genetics of hereditary retinal dystrophies and complex retinal degeneration, implicating a number of causal mechanisms and molecular pathological conditions underlying the clinically and genetically heterogeneous symptoms of retinal degeneration. Building on this knowledge, the role of genetics in devising treatment strategies becomes obvious and is revealed by a plethora of therapeutic treatments in this field. Some of these will be explored in more depth, with selected examples, in other articles included in this special issue of Medizinische Genetik.
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