Enhanced S-cone syndrome

Definition:

Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness, cystoid maculopathy and degenerative changes of the vascular arcades. Mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor, cause this disease.

References:

[1]. S Bernal, et al. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. Clin Genet. 2008 Apr;73(4):360-6. [Content Brief]

[2]. Yosuke Nakamura, et al. Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). Acta Ophthalmol Scand. 2004 Oct;82(5):616-22. [Content Brief]

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