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NR 6/2004
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Dystrofia plamkowata
– obraz kliniczny, histopatologiczny, immunohistochemiczny i
zależności genetyczne
Macular corneal dystrophy –
clinical state, histopathologic, immunohistochemical
examinations and genetical dependence
Ewa Mrukwa-Kominek, Iwona Rokita-Wala,
Stanisława Gierek-Ciaciura
Z I Katedry i Kliniki Okulistyki Śląskiej Akademii Medycznej w
Katowicach
Kierownik: prof. dr hab. n. med. Ariadna Gierek-Łapińska |
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| Summary: |
Macular corneal dystrophy
is a rare corneal disease, with autosomal recessive
inheritance, in which characteristic diffuse corneal
clouding and reduction of corneal thickness are present.
Authors in this article presented the clinical state and
molecular pathology underlying it’s importance in
diagnosis of the macular corneal dystrophy. As in other
inherited diseases, the latest achievement of molecular
biology, concerning the new mutation of the CHST6 gene,
changed the classification of the macular corneal
dystrophy, and can have the significant influence on
genetic therapy of this disease. |
| Słowa kluczowe: |
dystrofia plamkowata
rogówki, fenotypy immunohistochemiczne, zależności
genetyczne. |
| Key words: |
macular corneal dystrophy,
immunohistochemical fenotypes, genetic dependence. |
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