[Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence].
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.
Mrukwa-Kominek
Ewa
E
Kliniki Okulistyki Slaskiej Akademii Medycznej w Katowicach.
Rokita-Wala
Iwona
I
Gierek-Ciaciura
Stanisława
S
D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D010641:Phenotype