Goldmann-Favre syndrome (GFS) is an extremely rare inherited vitreoretinal dystrophy characterized by with hemeralopia, reduced bilateral visual acuity, peripheral and central retinoschisis, a liquefied vitreous cavity with preretinal band-shaped structures, macular edema, cataract formation, and an abnormal electroretinogram (ERG).
Diagnosis can be made using ocular examinations, fluorescein angiography (FA), ERG, and optical coherence tomography (OCT). The differential diagnosis of GFS includes X-linked retinoschisis, retinitis pigmentosa and Wagner disease. The disorder usually progresses to visual loss in the first 20 years of life, but using cyclosporin A and bromocriptine offers some improvement to visual acuity.
Bandah et al. (2009) recruited 6 consanguineous Muslim families to evaluate the involvement of NR2E3 in inherited retinal degenerative diseases. Patients from 4 of the Muslim families were homozygous for the same NR2E3 mutation, c.119-2A>C, but showed considerable variability in fundus appearance and retinal function, even among patients of comparable ages.
Nasr et al. (1990) described a 17-year-old girl with Goldmann-Favre vitreoretinal degeneration who was born to first cousin parents. She presented with reduced visual acuity in both eyes and night blindness. In addition, she had typical fundus features including maculopathy with a radiating stellate pattern surrounded by tiny vacuole-like pockets of retinoschisis throughout the posterior pole in the temporal vascular arcades.
Chavala et al. (2005) studied two affected siblings and two unaffected ones from a consanguineous Emirati family in which there were nine unaffected siblings. Patients suffered impaired vision with prominent macular oedema, macular schisis and yellowish lesions, some with pigmented edges, deep to the neurosensory retina in both eyes.