Goldmann-Favre Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

NR2E3

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins, Methotrexate ( LEDERTREXATE, NORDIMET, METHOTREXATE WYETH LEDERLE )

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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).

Epidemiology

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

Clinical description

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.

Etiology

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.

Diagnostic methods

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

Differential diagnosis

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

Genetic counseling

GFS is inherited as an autosomal recessive trait.

Prognosis

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.