Podsumowanie

Mimo dokładnego poznania patofizjologii rozwarstwienia siatkówki związanego z chromosomem X oraz trwających zaawansowanych badań genetycznych w dalszym ciągu medycyna nie umożliwia leczenia przyczynowego. Najnowsze doniesienia naukowe dają jednak duże nadzieje związane z terapią genową, która może okazać się bardzo skuteczną metodą leczenia.

X-linked retinoschisis

Abstract

X-linked retinoschisis is a common genetic diseases of the retina, which involves macular degeneration. It affects almost exclusively men and the symptoms become apparent before the end of the first decade of life. This paper details the pathophysiology, symptoms and diagnosis of X-linked retinoschisis, including a brief discussion of the existing treatment options, e.g. gene therapy.

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