Granular corneal dystrophies

Definition:

Granular corneal dystrophy (GCD), inherited in an autosomal dominant fashion, is one of the most common corneal dystrophies characterized by the deposition of gray-white crumb like opacities in the anterior stroma that slowly increase in number and progress into deeper parts of the cornea. The disease is typically asymptomatic, but can present with pain from recurrent erosions and decreased vision. Opacities in granular dystrophy are composed of eosinophilic hyaline deposits. Differences in the clinical appearance of the discrete corneal opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino or granular-lattice type, and type III Reis-Bucklers type. GCD has been linked to several mutations in TGFBI gene.

References:

[1]. Gordon K Klintworth, et al. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. [Content Brief]

[2]. Sean F Pieramici, et al. Genetics of corneal dystrophies: the evolving landscape. Curr Opin Ophthalmol. 2006 Aug;17(4):361-6. [Content Brief]

[3]. Vasilliki Poulaki, et al. Genetics of anterior and stromal corneal dystrophies. Semin Ophthalmol. 2008 Jan-Feb;23(1):9-17. [Content Brief]

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