brittle cornea syndrome 1

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brittle cornea syndrome 12016-11-24T22:46:33+00:00

brittle cornea syndrome 1

OPHTHALMOLOGY

A hereditary condition (OMIM:229200) characterised by extreme corneal thinning leading to corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and joint hypermobility.

It is clinically similar to, but much less severe than the ocular form of Ehlers-Danlos syndrome (type 6).

Molecular pathology Defects in ZNF469, which encodes zinc finger protein 469, a putative regulator of collagen synthesis and organisation, cause brittle cornea syndrome 1.

Synonyms Corneal fragility—keratoglobus—blue sclerae—joint hyperextensibility, dysgenesis mesodermalis corneae et sclerae, EDS6B (formerly), Ehlers-Danlos syndrome—type 6B (formerly), fragilitas oculi with joint hyperextensibility

References http://www.uniprot.org/uniprot/Q96JG9

http://omim.org/entry/229200

 

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