June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Disruption of the Human Cone Photoreceptor Mosaic from a Defect in NR2E3 Transcription Factor Function
Author Affiliations & Notes
  • Frank Siringo
    Ophthalmology, Columbia University Medical Center, Fort Lee, NJ
  • Sung Pyo Park
    Ophthalmology, Columbia University Medical Center, Fort Lee, NJ
    Ophthalmology, Kangdong Sacred Heart Hospital, Hallym University Medical Center, Seoul, Republic of Korea
  • In Hwan Hong
    Ophthalmology, Kangdong Sacred Heart Hospital, Hallym University Medical Center, Seoul, Republic of Korea
  • Stephen Tsang
    Ophthalmology, Columbia University Medical Center, Fort Lee, NJ
    Pathology & Cell Biology, Columbia University Medical Center, New York, NY
  • Winston Lee
    Ophthalmology, Columbia University Medical Center, Fort Lee, NJ
  • Jason Horowitz
    Ophthalmology, Columbia University Medical Center, Fort Lee, NJ
  • Rando Allikmets
    Ophthalmology, Columbia University Medical Center, Fort Lee, NJ
  • Stanley Chang
    Ophthalmology, Columbia University Medical Center, Fort Lee, NJ
  • Suzanne Yzer
    Ophthalmology, Columbia University Medical Center, Fort Lee, NJ
    Ophthalmology, Rotterdam Eye Hospital, Rotterdam, Netherlands
  • Footnotes
    Commercial Relationships Frank Siringo, None; Sung Pyo Park, None; In Hwan Hong, None; Stephen Tsang, None; Winston Lee, None; Jason Horowitz, None; Rando Allikmets, None; Stanley Chang, Alcon Laboratories (C), Alimera Sciences (C); Suzanne Yzer, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 3449. doi:
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    • Get Citation

      Frank Siringo, Sung Pyo Park, In Hwan Hong, Stephen Tsang, Winston Lee, Jason Horowitz, Rando Allikmets, Stanley Chang, Suzanne Yzer; Disruption of the Human Cone Photoreceptor Mosaic from a Defect in NR2E3 Transcription Factor Function. Invest. Ophthalmol. Vis. Sci. 2013;54(15):3449.

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

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Abstract
 
Purpose
 

Enhanced S-cone syndrome is an orphan disease caused by mutations in the NR2E3 gene, which results in an increased number of S-cones overpopulating the retina. Although the characteristic onset of enhanced S-cone syndrome can be well documented by current ophthalmic imaging modalities, techniques such as spectral domain optical coherence tomography (SD-OCT) and scanning laser ophthalmoscopy (SLO) fail to provide sufficient details regarding the microstructure of photoreceptors in retinal diseases. Adaptive optics (AO) provides a unique opportunity to analyze the effects of genetic mutations on photoreceptors by compensating for aberrations in the human eye.

 
Methods
 

3 eyes of 3 patients with enhanced S-cone syndrome were studied by clinical examination, genetic screening, fundus autofluorescence (FAF) imaging, SD-OCT, and electroretinography (ERG). Cone mosaic imaging was accomplished by an AO-SLO equipped with a dual crystal on silicon spatial light modulator. Qualitative image analyses and genetic findings were investigated in each patient.

 
Results
 

The diagnosis was confirmed by ERG and genetic analysis. Two disease-causing mutations in the NR2E3 gene were identified on 2 study patients, as well as a novel mutation (202 A>G, S68G) in the third. Fundus photograph, FAF and SD-OCT found a rosette-like lesion within the mid-periphery along the vascular arcades of the retina. In all AO-SLO images, sparse distribution and asymmetric size of cone mosaic pattern were found within central retina. There were regions of dark space between groups of photoreceptors, distinguishable from shadowing and artifacts.

 
Conclusions
 

AO-SLO provided an in-depth window into the retina of enhanced S-cone syndrome patients beyond the ability of other current imaging modalities. Dark lesions within the central retina contain structurally dysfunctional cones, which account for retinal mosaic disorganization and may predispose affected areas to other abnormalities such as rosettes. AO-SLO can be an efficient diagnostic tool in clinics for examining cellular-level pathologies in various retinal dystrophies.

     
Keywords: 552 imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • 689 retina: distal (photoreceptors, horizontal cells, bipolar cells) • 494 degenerations/dystrophies  
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