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Wydanie 1/2010
str. 27

Podłoże genetyczne jaskry

Genetic Background of Glaucoma

Anna Walczak¹, Ireneusz Majsterek¹, Anna Kamińska², Jacek P. Szaflik², Jerzy Szaflik²

¹ Zakład Chemii i Biochemii Klinicznej Uniwersytetu Medycznego w Łodzi
  Kierownik: dr hab. n. biol. prof. nadzw. Ireneusz Majsterek
² Katedra i Klinika Okulistyki II Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego
  Samodzielny Publiczny Kliniczny Szpital Okulistyczny w Warszawie
  Kierownik: prof. dr hab. n. med. Jerzy Szaflik

Summary: Glaucoma is one of the leading causes of irreversible blindness in developed and developing countries. Because of its almost asymptomatic primary course it is important to find the way to diagnose or qualify the patient to a risk group. This may allow us to identify the disease in its early stage and to start appropriate treatment. Glaucoma is often a hereditary sickness and that is why scientists try to find changes in genes, which could play some role in glaucoma development. Today, we are almost sure that MYOC, OPTN and CYP1B1 are involved in this disease. Moreover, there are plenty of genes, which may indirectly contribute to glaucoma development or syndromes coursing with glaucomatous neuropathy. The detection of polymorphisms or mutations in genes of patients with glaucoma paves new ways for diagnosis and specific treatment of this disease. This paper is a review of research on the genetic background of glaucoma.

Słowa kluczowe: jaskra, geny, MYOC, OPTN, CYP1B1

Keywords: glaucoma, genes, MYOC, OPTN, CYP1B1

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