Enhanced S-Cone Syndrome

Alternative Names

  • ESCS
  • Goldmann-Favre Syndrome
  • Retinoschisis with Early Hemeralopia
  • Favre Hyaloideoretinal Degeneration
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

268100

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q23

Description

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).

 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
162080.1United Arab EmiratesMale Pigmentary retinopathy; Reduced visual a...NM_006177.5:c.339C>GHomozygousAutosomal, RecessiveKhan. 2020; Alsalamah et al. 2020
162080.2United Arab EmiratesFemale Pigmentary retinopathy; Reduced visual a...NM_006177.5:c.339C>GHomozygousAutosomal, RecessiveKhan. 2020
268100.1.1United Arab EmiratesUnknownYesYes Retinal dystrophyNM_014249.4:c.932G>AHomozygousAutosomal, RecessiveChavala et al. 2005
268100.1.2United Arab EmiratesUnknownYesYes Retinal dystrophyNM_014249.4:c.932G>AHomozygousAutosomal, RecessiveChavala et al. 2005 Sibling of 268100.1....
268100.2.1PalestineMaleYesYes Retinal dystrophyNM_014249.4:c.119-2A>CHomozygousAutosomal, RecessiveBandah et al. 2009 The patient had two ...
268100.3.1PalestineFemaleYesYes Retinal dystrophyNM_014249.4:c.119-2A>CHomozygousAutosomal, RecessiveBandah et al. 2009
268100.3.2PalestineFemaleYesYes Retinal dystrophyNM_014249.4:c.119-2A>CHomozygousAutosomal, RecessiveBandah et al. 2009 Sister of 268100.3.1
268100.4.1PalestineFemaleYesYes Retinal dystrophyNM_014249.4:c.119-2A>CHomozygousAutosomal, RecessiveBandah et al. 2009
268100.4.2PalestineFemaleYesYes Retinal dystrophyNM_014249.4:c.119-2A>CHomozygousAutosomal, RecessiveBandah et al. 2009 Sister of 268100.4.1
268100.5.1PalestineFemaleNoYes Retinal dystrophyNM_014249.4:c.119-2A>CHomozygousAutosomal, RecessiveBandah et al. 2009
268100.6United Arab EmiratesMale Reduced visual acuity; NyctalopiaNM_014249.4:c.932G>AHomozygousAutosomal, RecessiveKhan. 2020
268100.7United Arab EmiratesFemale Reduced visual acuity; NyctalopiaNM_014249.4:c.119-2A>CHomozygousAutosomal, RecessiveKhan. 2020
268100.G.1Saudi ArabiaUnknownYesYes Retinal dystrophyNM_014249.4:c.932G>AHomozygousAutosomal, RecessivePatel et al, 2018 3 members of a famil...
268100.G.2Saudi ArabiaUnknownYesNo Retinal dystrophyNM_014249.4:c.932G>AHomozygousAutosomal, RecessivePatel et al, 2018 2 members of a famil...
268100.G.3Saudi ArabiaUnknownYesYes Retinal dystrophyNM_016346.4:c.931C>THomozygousAutosomal, RecessivePatel et al, 2018 3 members of a famil...

Other Reports

Saudi Arabia

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.

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