Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years

Abstrakt

Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 mutations associated with BCS type 1 to date and to describe an additional case of Czech/Polish background

Klíčová slova

• ZNF469
• deafness
• brittle cornea syndrome
• blindness
• cornea rupture
• penetrating keratoplasty