Goldmann-Favre syndrome

Definition:

Goldmann-Favre syndrome (GFS) is an autosomal recessive progressive retinal degeneration that develops due to a mutation in the NR2E3 gene, which has a role in the regulation of cone cell differentiation. GFS and enhanced S-cone syndrome [DS:H02075] represent two distinct entities on a spectrum of retinal degenerative disease caused by mutations in the same gene.

References:

[1]. Daniel F Schorderet, et al. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat. 2009 Nov;30(11):1475-85. [Content Brief]

[2]. Serdar Özateş, et al. Goldmann-Favre Syndrome: Case Series. Turk J Ophthalmol. 2018 Feb;48(1):47-51. [Content Brief]

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