Brittle cornea syndrome

Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).

A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive. This is the second description of this syndrome, which should be called the 'brittle cornea syndrome'. This syndrome has so far been reported only in Tunisian Jewish families.

Brittle cornea syndrome: recognition, molecular diagnosis and management

Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in affected patients. Two genes, ZNF469 and PRDM5, have now been identified, in which causative pathogenic mutations collectively account for the condition in nearly all patients with BCS as...

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

BACKGROUND Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens. We identified b...

A novel mutation in PRDM5 in brittle cornea syndrome.

To the Editor : Brittle cornea syndrome (BCS) (MIM229200) is an autosomal recessive disorder characterized by abnormally fragile cornea that can easily rupture. It was debated whether BCS is a distinct disorder or a subtype of Ehler-Danlos syndrome (EDS VI specifically) (1). However, the demonstration of normal lysylpyridinoline to total hydroxylysylpyridinoline (typically abnormal in EDS VI) p...

Blue sclerae with keratoglobus and brittle cornea.