KÖVRƏK BUYNUZ QİŞA SİNDROMU (ƏDƏBİYYAT İCMALI)

Abstract

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.