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Ophthalmic Images
June 11, 2015

Enhanced S-Cone Syndrome and Macular Hole

Author Affiliations
  • 1Retina Division, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland
  • 2Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia
JAMA Ophthalmol. 2015;133(6):e15108. doi:10.1001/jamaophthalmol.2015.108

A woman in her 20s presented with decreased vision in both eyes since childhood. Best-corrected visual acuity was 20/300 OD and 20/60 OS. Fundi in both eyes had changes of the retinal pigment epithelium with subretinal gliosis.1 The right eye had a full-thickness macular hole with subretinal fluid (Figure). Fluorescein angiography revealed hyperfluorescent and hypofluorescent areas that corresponded to retinal pigment epithelium changes in both eyes. Electroretinography revealed a subnormal scotopic and photopic response, an extinct rod photoreceptor response, and hypersensitivity to shorter wavelengths. A diagnosis of enhanced S-cone syndrome was made based on electroretinographic and clinical findings. The results of an NR2E3 mutation test were negative.

Figure.  
A woman in her 20s with decreased vision since childhood. A, Fundi in both eyes had retinal pigment epithelium change with subretinal gliosis. B, The right eye had a macular hole with subretinal fluid. A diagnosis of enhanced S-cone syndrome was made based on electroretinography and clinical findings.

A woman in her 20s with decreased vision since childhood. A, Fundi in both eyes had retinal pigment epithelium change with subretinal gliosis. B, The right eye had a macular hole with subretinal fluid. A diagnosis of enhanced S-cone syndrome was made based on electroretinography and clinical findings.

Retinal pigmentary changes and the amount of cystoid changes in the macula progress over time.1 In our patient, chronic schisis or subretinal fluid since childhood may have led to a previously undescribed full-thickness macular hole in this condition.2

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Article Information

Submitted for Publication: October 24, 2014; final revision received November 12, 2014; accepted November 13, 2014.

Corresponding Author: J. Fernando Arevalo, MD, Vitreoretinal Division, King Khaled Eye Specialist Hospital, Al-Oruba Street, PO Box 7191, Riyadh 9661482-1234, Kingdom of Saudi Arabia (arevalojf@jhmi.edu).

Conflict of Interest Disclosures: Both authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr Arevalo reported receiving financial support from IRIDEX, Optos Inc, Novartis Pharmaceuticals Corp, Second Sight LLC, Springer SBM LLC, Alcon Laboratories, and Alimera Sciences Inc. No other disclosures were reported.

References
1.
Yzer  S, Barbazetto  I, Allikmets  R,  et al.  Expanded clinical spectrum of enhanced S-cone syndrome.  JAMA Ophthalmol. 2013;131(10):1324-1330. doi:10.1001/jamaophthalmol.2013.4349.PubMedGoogle ScholarCrossref
2.
Theodossiadis  PG, Koutsandrea  C, Kollia  AC, Theodossiadis  GP.  Optical coherence tomography in the study of the Goldmann-Favre syndrome.  Am J Ophthalmol. 2000;129(4):542-544.PubMedGoogle ScholarCrossref
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