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An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome
  1. S H Chavala*,
  2. A Sari*,
  3. H Lewis,
  4. G J T Pauer,
  5. E Simpson,
  6. S A Hagstrom,
  7. E I Traboulsi
  1. Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
  1. Correspondence to: Elias I Traboulsi MD, Cole Eye Institute, The Cleveland Clinic Foundation, Desk i-32, 9500 Euclid Avenue, Cleveland, OH 44195, USA;

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Goldmann-Favre syndrome (GFS) is one of the rarest inherited vitreoretinal dystrophies that manifests with hemeralopia, degenerative vitreous changes, peripheral and central retinoschisis, a liquefied vitreous cavity with preretinal band-shaped structures, macular oedema, cataract formation, and an abnormal electroretinogram (ERG).1–3 The term “clumped pigmentary retinal degeneration” (CPRD) describes a group of patients with decreased night and peripheral vision who have round and irregular clumps of pigment in the mid-peripheral fundus with little or no evidence of bone spicule formation.4 This pattern of pigmentation occurs in retinitis pigmentosa (RP) with preserved para-arteriolar retinal pigment epithelium (PPRPE),5 enhanced S-cone syndrome (ESCS), and GFS, and these disorders share common mutations in the NR2E3 gene, which is involved in retinal cell fate determination.6

We present clinical and molecular genetic studies of a family from the United Arab Emirates with a classic GFS phenotype and a mutation in the NR2E3 gene.

Case reports

Two affected siblings and two unaffected siblings from a consanguineous family in which there were nine unaffected siblings were examined. GFS was diagnosed according to previous clinical descriptions of the disease.1,2 Complete ocular examinations, fluorescein angiography (FA), ERG, and optical coherence tomography (OCT) were …

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