Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by
corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder …

Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of
(currently recognized) thirteen connective tissue disorders characterized by skin …

Brittle cornea syndrome (BCS) is a rare recessive condition characterised by extreme
thinning of the cornea and sclera. BCS results from loss-of-function mutations in the poorly …

Aim To describe a family segregating a novel truncating ZNF469 homozygous mutation
causing brittle cornea syndrome type 1 in a male patient and associated with corneal ectasia …

Purpose To report the clinical, tomographic, histopathological and genetic findings of a
patient with brittle cornea syndrome and a novel mutation in the ZNF469 gene likely …

It concerns three siblings (two 28 year old twin boys and a 25 year old woman) who
presented a previous history of rupture of eyeball in one eye and very poor vision in the …