WebApr 11, 2016 · Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints ( Al-Hussain et al., 2004 ). It is classified as a form of Ehlers-Danlos syndrome ( Malfait et al., 2024 ). For a discussion of genetic heterogeneity of ... WebOcular Features: Corneal thinning and extreme fragility are characteristic of BCS2. Ruptures of the cornea may occur with minimal trauma and repair is often unsatisfactory due to the lack of healthy tissue. Keratoconus, acute hydrops, keratoglobus, and high myopia are frequently present as well.
Brittle Cornea Syndrome (BCS) - The Ehlers Danlos Society
WebMar 1, 2024 · Most notably, these manifestations include high myopia, keratoconus, and keratoglobus. 1, 2 Brittle cornea syndrome has been reported in association with EDS type VI, a rare autosomal recessive disease affecting extracellular matrix and collagen synthesis characterized by blue sclera and corneal thinning which increases the risk of corneal ... WebBrittle Cornea Syndrome: A Big Risk for Rupture. Brittle cornea syndrome (BCS) is an autosomal recessive connective tissue disorder that causes severe corneal thinning and carries an increased risk for spontaneous perforation or rupture from minimal trauma. 2 BCS is a more accurate name for a group of conditions that previously were labeled … texture pack creator online
Brittle Cornea Syndrome 1 Hereditary Ocular Diseases
WebJul 1, 2024 · Abstract. A 2-year-old boy of consanguineous parents presented with spontaneous globe rupture of the right eye that initially raised suspicions of child abuse. Other ocular and extraocular findings, a similar history of corneal rupture following minor trauma in his sibling, and genetic analysis confirmed the diagnosis of brittle cornea … WebNM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) AND Brittle cornea syndrome 1 Clinical significance: Uncertain significance (Last evaluated: Jun 14, 2016) Review status: 1 star out of maximum of 4 stars WebBrittle cornea syndrome: current perspectives [Letter] Arjun Srirampur, Shalini Kumari Agrawal, Veerendranath Pesala Anand Eye Institute, Hyderabad 500007, IndiaCorrespondence: Arjun SrirampurAnand Eye Institute, Nagendranagar Colony, Hyderabad 500007, IndiaTel +91 998 922 9832Fax +91 040 2 715 1999Email … texture pack creator for minecraft free java