Brittle cornea syndrome
Brittle cornea syndrome
Definition
Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
Also known as brittle cornea syndrome, brittle cornea syndrome type 1, kyphoscoliosis type — per MONDO