WebI agree with the authors on various surgical techniques to manage the eyes with brittle cornea syndrome (BCS). I have managed a few children with BCS in our hospital with spontaneous corneal ruptures after a trivial trauma. Based on our experience, I would like to add a few surgical tips in managing a corneal tear in patients with BCS. ... WebSep 1, 2024 · Brittle cornea syndrome (BCS) is a rare recessive condition characterised by extreme thinning of the cornea and sclera. BCS results from loss-of-function …
Whole-Exome Sequencing Identifies Novel Compound …
WebBrittle Cornea Syndrome (BCS) is a rare autosomal recessive disorder with biallelic mutations on either ZNF469 (type 1) or PRDM5 (type 2). BCS's main impact is the eye … WebThe Ehlers-Danlos Society Headquarters. The Ehlers-Danlos Society - Europe Office 7 35-37 Ludgate Hill London, EC4M 7JN UK. 44 203 887 6132 health safety and welfare regulations 1999
hEDS Diagnostic Checklist - The Ehlers Danlos Society
WebBrittle cornea syndrome, a tissue disorder that makes your cornea thin. Other potential causes of a blue tint in your sclera include: Iron deficiency and iron-deficiency anemia. A lack of iron may cause a low red blood cell count. Rheumatoid arthritis, an autoimmune condition that affects your joints. WebJun 28, 2024 · In human beings, ZNF469 mutations are currently associated with the pathogenesis of brittle cornea syndrome, an autosomal recessive connective tissue disease characterized by extreme corneal thinning and fragility, as well as diffuse connective tissue dysfunction . 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 … good faith anniston al