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Goldmann-Favre syndrome

Orpha number ORPHA53540
Synonym(s) Enhanced S-cone syndrome
Retinoschisis with early nyctalopia
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Adolescence / Young adulthood
ICD-10
  • H35.5
OMIM
UMLS
  • C0339541
MeSH -
MedDRA -
SNOMED CT
  • 232065000

Summary

Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).

Less than 20 cases have been reported so far, some of them born to consanguineous families. Both sexes seem equally affected.

The onset is usually in childhood. GFS manifests with progressive loss of visual acuity and night blindness. Peripheral vision can be decreased. Cataract is a frequent complication. Optic atrophy has been occasionally reported. The vitreous changes are degenerative and may include microfibrillar strands, liquefaction and posterior vitreous detachment. The fundus features include annular pigmentary changes (clumped pigment deposits), central or peripheral retinoschisis, cystoid macular edema. The GFS features are usually bilateral and symmetrical. The electroretinogram (ERG) is abnormal: both rod and cone ERGs are markedly diminished and may be non-detectable. Patients may have an increased sensitivity to blue light due to increased S-cone sensitivity.

Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients with GFS. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. GFS, some forms of autosomal recessive and dominant retinitis pigmentosa and enhanced S-cone syndrome (ESCS) are caused by mutations in the NR2E3 gene.

Diagnosis is based on clinical findings, ocular investigations including fundus autofluorescence, optical coherence tomography, electroretinogram and mutations in NR2E3.

GFS should be distinguished from X-linked retinoschisis, retinitis pigmentosa and autosomal dominant hyaloideoretinal degeneration (Wagner disease) (see these terms).

GFS is inherited as an autosomal recessive trait.

GFS has a progressive course. In most cases, visual loss occurs in the first two decades of life. Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine.

Expert reviewer(s)

  • Pr Christian HAMEL

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