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 …