EDICT syndrome

Definition:

EDICT syndrome is an autosomal dominant syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning. It has been reported that a single-base substitution in the seed region of miR-184 causes EDICT syndrome.

References:

[1]. Anne E Hughes, et al. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5063-6. [Content Brief]

[2]. Benjamin W Iliff, et al. A single-base substitution in the seed region of miR-184 causes EDICT syndrome. Invest Ophthalmol Vis Sci. 2012 Jan 25;53(1):348-53. [Content Brief]

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