May 2008
Volume 49, Issue 13
ARVO Annual Meeting Abstract  |   May 2008
A NR2E3 Mutation (R309G) Associated With a Mild Form of Enhanced S-Cone Syndrome
Author Affiliations & Notes
  • M. S. Galantuomo
    Ophthalmology, University of Cagliari, Cagliari, Italy
  • I. Zucca
    Ophthalmology, University of Cagliari, Cagliari, Italy
  • S. Banfi
    Genetics, Tigem-Telethon, Naples, Italy
  • C. Ziviello
    Genetics, Tigem-Telethon, Naples, Italy
  • G. Carboni
    Ophthalmology, University of Cagliari, Cagliari, Italy
  • G. Forma
    Ophthalmology, University of Cagliari, Cagliari, Italy
  • Y. Titi
    Ophthalmology, University of Cagliari, Cagliari, Italy
  • M. Fossarello
    Ophthalmology, University of Cagliari, Cagliari, Italy
  • Footnotes
    Commercial Relationships  M.S. Galantuomo, None; I. Zucca, None; S. Banfi, None; C. Ziviello, None; G. Carboni, None; G. Forma, None; Y. Titi, None; M. Fossarello, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2186. doi:
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      M. S. Galantuomo, I. Zucca, S. Banfi, C. Ziviello, G. Carboni, G. Forma, Y. Titi, M. Fossarello; A NR2E3 Mutation (R309G) Associated With a Mild Form of Enhanced S-Cone Syndrome. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2186. doi:

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: : We investigated the ophthalmic features of a mild form of enhanced S-cone syndrome (ESCS) in a 9-year-old Sardinian female proband and 3 unaffected family members. A genetic analysis was performed.

Methods: : Fundus examinations (fundus photography, fluorescein angiography and fundus autofluorescence (AF), optical coherence tomography (OCT), automatic perimetry (AP) (W/W and B/Y), color vision tests, and full-field and spectral electroretinography (ERG) were performed. Mutation screening of the NR2E3 gene, which encodes a photoreceptor-specific orphan nuclear receptor, was performed using an integrated strategy including the use of a microarray chip (available at Asperbio) that allows the screening of a large number of mutations already known to be responsible for autosomal recessive RP and direct sequencing analysis.

Results: : The diagnosis of ESCS was made based on the distinctive visual field (B/Y vs. W/W) and spectral ERG findings: hypersensitivity to blue stimuli and hyposensitivity to red stimuli. The proband had good visual acuity, normal color vision, good central VFs (B/Y better than W/W). Funduscopy showed pigment clumpings from the vascular arcades to the midperipheral retina. Fundus AF imaging revealed a wide disciform area of hyper-autofluorescence located in the macula. The OCT images showed a morphologically normal macular thickness in LE, and abnormal macular thickness related to cystoid edema in RE, which was responsive to oral acetazolamide. In the full-field ERG, low amplitudes of rod b-waves were detected. Waveforms between rod-plus-cone and cone ERGs were very similar. Mutation analysis identified a homozigous mutation, R309G, which resides in the ligand-binding domain (LBD). The unaffected parents carried one of these mutations each, consistent with autosomal recessive transmission.

Conclusions: : Our study suggests that the expression of this mutant of NR2E3, is correlated with a mild form of ESCS, in that full foveal function and retinal laminar structure are maintained, and certain rod responses are present.

Keywords: retinal degenerations: hereditary • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • retina 

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