brittle cornea syndrome

Genetics

• associated with defects in PRDM5 (type 2)

Clinical manifestations

type 2

• extreme corneal thinning resulting in corneal rupture after minor trauma
• blue sclerae
• keratoconus or keratoglobus
• hyperelasticity of the skin
• hypermobile joints

More general terms

• corneal disease (keratopathy)
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/614170