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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B70 Inherited retinal dystrophies
H02341 Goldmann-Favre syndrome
Because appropriate ERG analyses demonstrated a relatively enhanced S-cone function in GFS patients, it was concluded that enhanced S-cone sensitivity syndrome and GFS were not distinct entities but simply two identifiable phenotypes in a wide spectrum of clinical expression of a same retinal degeneration.
