WebMar 20, 2024 · Brittle Cornea Syndrome is an autosomal recessive syndrome that affects connective tissues. Type I is diagnosed through the identification of mutation in the ZNF469 gene which encodes the transcription regulator that participate in pathways regulating extracellular matrix and collagen synthesis [ 2 ]. WebBlue Sclera With and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469Mutation (p.E1392X) Arch Ophthalmol.2010;128(10):1376-1379.eFigures and eTable eFigures and eTable -Download PDF (89 KB). This file requires Adobe Reader®. eFigure 1. Sibling 3. eFigure 2. Analysis …
More than meets the eye: expanding and reviewing the clinical …
WebWhat is brittle cornea syndrome (BCS)? BCS is a genetic connective tissue disorder that causes the cornea to be thin, fragile, and prone to rupture. BCS also causes blue … WebMay 4, 2013 · Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore … strawberry inn az hotels
Brittle Cornea Syndrome - EyeWiki
WebBrittle cornea syndrome 1 (BCS) (Fragilitas oculi with joint hyperextensibility ) (Corneal fragility, keratoglobus, blue sclerae, joint hypermobility) (Dysgenesis mesodermalis corneae et sclerae) (Ehlers-Danlos syndrome, type VIB, formerly; EDS6B) 脆弱角膜症候群1 WebJul 15, 2024 · Mutations in ZNF469 cause brittle cornea syndrome (BCS) [5, 6], a multisystem connective tissue disorder primarily associated with corneal thinning but also blue sclerae and joint hypermobility . BCS may also be caused by mutations in the gene encoding the transcription factor PRDM5. WebAir tamponade is also com- charged-particle therapy in the absence of a traumatic corneal perforation in a monplace, but the intraocular gas tamponade we penetrating injury of the uveal tract. case of presumed brittle cornea syndrome Case report The management of corneal perforation can be A 41-year-old lady was referred by her optician difficult. round staircase plan