Goldmann-Favre syndrome

Gold·mann-Favre syndrome

(gōldt'mahn fahv),
an autosomal recessive, progressive vitreotapetoretinal degeneration.

Gold·mann-Fav·re syn·drome

(gōld'mahn fahv'rĕ sin'drōm)
An autosomal recessive, progressive vitreotapetoretinal degeneration.
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References in periodicals archive ?
Goldmann-Favre syndrome (GFS) is a progressive retinal degeneration that develops due to a mutation in the NR2E3 gene, which has a role in the regulation of cone cell differentiation, and has an autosomal recessive inheritance pattern.
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
Retinal pathology of a patient with Goldmann-Favre syndrome. Ophthalmic Genet.
A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.