WebBrittle 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. Non-ocular symptoms include hearing loss, but also signs of connective tissue fragility, placing it in the Ehlers-Danlos syndrome (EDS) spectrum. WebJun 25, 2024 · Brittle cornea syndrome (BCS) is a subtype of EDS that mostly affects your cornea, the clear outer layer of your eyes. You may have a bluish hue in the white area around your eyes, and the shape of your cornea may change because it’s thinner than it …
Ehlers-Danlos Syndrome Symptoms, Diagnosis and …
WebA type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short … WebBlue sclera with corneal fragility characterizes brittle cornea syndrome (BCS) (OMIM #229200), an underrecognized predominantly ocular disorder that is often confused with … ordo chlorophyta
Blue Sclera With and Without Corneal Fragility (Brittle Cornea
WebApr 4, 2024 · Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that are caused by mutations in genes encoding the structure or processing of collagen. ... The other, more rare subtypes, include classical-like EDS, cardiac-valvular EDS, arthrochalasia EDS, dermatosparaxis EDS, kyphoscoliotic EDS, brittle cornea syndrome ... 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 ... WebFeb 2, 2000 · PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive generalized connective tissue disorder characterized by hypotonia, early-onset kyphoscoliosis, and generalized joint hypermobility in association with skin fragility and ocular abnormality. ... Brittle cornea syndrome (BCS) is associated with … how to turn off wi-fi assist