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Case Reports
. 2023 Jun 1;17(4S):S15-S18.
doi: 10.1097/ICB.0000000000001337.

A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT

Mariana M da Palma  1   2 , Molly Marra  1 , Mark E Pennesi  1
Affiliations
Case Reports

A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT

Mariana M da Palma et al. Retin Cases Brief Rep. .

Abstract

Purpose: To describe the clinical phenotype and molecular diagnosis of a patient with atypical presentation of enhanced S-cone syndrome.

Methods: This is a case report of a patient who underwent best-corrected visual acuity, slit-lamp exam, fundus examination, autofluorescence, optical coherence tomography, kinetic perimetry, and full-field electroretinography. Genetic testing was performed via next-generation sequencing.

Results: A 33-year-old female patient presented with mild nyctalopia, but normal rod function measured by electroretinogram and foveoschisis on optical coherence tomography. She also presented a double hyperautofluorescent ring on autofluorescence. Genetic testing found a pathogenic variant c.925C>G (p.Arg309Gly) and a likely pathogenic variant c.299C>T (p.Arg77Trp) in NR2E3 gene.

Conclusion: Enhanced S-cone syndrome may present without the pathognomonic findings of decreased rod function on electroretinogram, suggesting the importance of genetic testing in retinal diseases for diagnosis.

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Conflict of interest statement

None of the authors has any financial/conflicting interests to disclose.

Figures

Fig. 1.
Fig. 1.
Multimodal retinal imaging. A and D. Fundus photograph showed blunted foveal reflex (B and E) autofluorescence showed a double hyperautofluorescent ring. C and F. Optical coherence tomography showed outer retinal atrophy outside macula area and foveoschisis.
Fig. 2.
Fig. 2.
Functional testing. The full-field electroretinogram showed normal amplitudes and normal implicit time of rod-dependent responses and normal amplitude of cone-dependent responses, but prolonged timing of cones.
See this image and copyright information in PMC

References

    1. McCulloch DL, Marmor MF, Brigell MG, et al. . ISCEV standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 2015;130:1–12. - PubMed
    1. Rodríguez FJ, Rodríguez A, Mendoza-Londoño R, Tamayo ML. X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation. Retina 2005;25:69–74. - PubMed
    1. Schorderet DF, Escher P. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat 2009;30:1475–1485. - PubMed
    1. Kanda A, Swaroop A. A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. Mol Vis 2009;15:2174–2184. - PMC - PubMed
    1. Wright AF, Reddick AC, Schwartz SB, et al. . Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. Hum Mutat 2004;24:439. - PubMed

Publication types

Supplementary concepts