KÖVRƏK BUYNUZ QİŞA SİNDROMU (ƏDƏBİYYAT İCMALI)
Açar sözlər
fragile cornea syndrome, cornea rupture, ZNF469 and PDRM5 genesXülasə
SUMMARY
The fragile cornea syndrome is a genetic disease that is transmitted through the autosomal recessive pathway and is a multisystem anomaly of connective tissue characterized by thinning and rupturing of the cornea. The disease is caused by a mutation of the ZNF469 and PRDM5 genes. In patients with fragile cornea syndrome, the central part of the cornea is very fragile which leads to the rupture of the cornea spontaneously or with minimal trauma. Usually it takes place during the first years of child’s life. Other causes include myopia, progressive keratoconus or keratoglobus and retinal detachment. For the differential diagnosis between the fragile cornea syndrome and traumatic damages it’s necessary to make the clinico-genetic analysis.
