Brittle cornea syndrome

Definition:

Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens.

References:

[1]. Almogit Abu, et al. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet. 2008 May;82(5):1217-22. [Content Brief]

[2]. Emma M M Burkitt Wright, et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet. 2011 Jun 10;88(6):767-777. [Content Brief]

[3]. Louise F Porter, et al. Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Orphanet J Rare Dis. 2015 Nov 11;10:145. [Content Brief]

[4]. Marianne Rohrbach, et al. ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab. 2013 Jul;109(3):289-95. [Content Brief]

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