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NR. 1/2005
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Podstawowe aspekty
genetyczne w jaskrze młodzieńczej otwartego kąta oraz
charakterystyka genu MYOC
Basic Genetic Aspects of Juvenile-Onset Primary Open-Angle
Glaucoma and MYOC Gene Characteristics
Agnieszka Bielińska, Paweł
Bieliński
I Klinika Okulistyki Akademii Medycznej w Lublinie
Kierownik: prof. dr hab. med. Zbigniew Zagórski |
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| Summary: |
The aim of the study was
to present current theories and views on glaucoma
pathogenesis, especially on the field of genetics. The
term „myocilin glaucoma” represents these cases of
primary open-angle glaucoma and juvenile-onset
open-angle glaucoma that are caused by mutations in the
MYOC gene. Up to now over 70 mutations were found in
several studies. Although family history is one of the
risk factors in glaucoma, genetic researches did not
support the theory that particular mutation in MYOC gene
causes particular type of glaucoma. Instead, due to
these studies more questions than answers arouse and
made glaucoma more complicated disease than before. |
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| Key words: |
juvenile-onset open-angle
glaucoma, primary open-angle glaucoma, myocilin glaucoma,
TIGR gene, MYOC gene, genes in glaucoma, trabecular
meshwork inducible glucocorticoid response, myocilin,
locus GLC1A. |
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