July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
S-cone function in Blue Cone Monochromacy
Author Affiliations & Notes
  • Jennifer R Chao
    Ophthalmology, University of Washington, Seattle, Washington, United States
  • Xiaoyun Jiang
    Ophthalmology, University of Washington, Seattle, Washington, United States
  • James A Kuchenbecker
    Ophthalmology, University of Washington, Seattle, Washington, United States
  • Anna-Lisa Doebley
    Ophthalmology, University of Washington, Seattle, Washington, United States
  • Maureen Neitz
    Ophthalmology, University of Washington, Seattle, Washington, United States
  • Jay Neitz
    Ophthalmology, University of Washington, Seattle, Washington, United States
  • Ramkumar Sabesan
    Ophthalmology, University of Washington, Seattle, Washington, United States
  • Footnotes
    Commercial Relationships   Jennifer Chao, None; Xiaoyun Jiang, None; James Kuchenbecker, None; Anna-Lisa Doebley, None; Maureen Neitz, None; Jay Neitz, None; Ramkumar Sabesan, None
  • Footnotes
    Support  Unrestricted grant from the Research to Prevent Blindness, Research to Prevent Blindness Career Development Award, Burroughs Wellcome Fund Careers at the Scientific Interfaces, Latham vision research innovation awards, Brightfocus Foundation, NIH Grants EY026030, EY028118; NEI Vision Research Core EY001730
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 585. doi:https://doi.org/
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    • Get Citation

      Jennifer R Chao, Xiaoyun Jiang, James A Kuchenbecker, Anna-Lisa Doebley, Maureen Neitz, Jay Neitz, Ramkumar Sabesan; S-cone function in Blue Cone Monochromacy. Invest. Ophthalmol. Vis. Sci. 2019;60(9):585. doi: https://doi.org/.

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

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Abstract

Purpose : To determine the structure of foveal cones and S-cone visual acuity in blue cone monochromacy (BCM) compared to normal controls

Methods : L and M opsin genes were sequenced in the BCM subject. S-cone and L/M-cone isolating tumbling ‘E’ visual acuity was measured in one BCM patient and 4 normal controls. Cone-isolating stimuli were generated by a customized Maxwellian view visual simulator and projected onto the retina through a 1 mm artificial pupil. The simulator consisted of an adjustable spectral light source (380-780 nm)and high-resolution digital light projector that generated spatial patterns, enabling precise control of spatiochromatic stimuli. A custom adaptive optics SLO (AOSLO) with 840 nm light in reflectance was used to obtain photoreceptor images in the central 6 degrees. These images were registered, montaged and assessed for the locus of fixation relative to the anatomical foveola.

Results : Genetic testing of a 27 yo male with a history of high myopia (SE -11.50D OU) and Snellen VA of 20/50 OD and 20/70 OS revealed LIAVA and MIAVA haplotypes in OPN1LWand OPN1MW, respectively. These haplotypes result in complete exon 3 skipping and the absence of red and green photopigment expression. AOSLO imaging revealed that fixation of the BCM subject was located 0.5 deg infero-temporal to the anatomical fovea. At this retinal location, an abundance of larger bright punctate spots (presumably S-cones) were visualized within a mosaic of smaller diameter rods and darker gaps, presumably housing non-waveguiding L and M cone inner segments. S cone isolating visual acuity of the BCM subject was 20/69.5±3.4 OD, which was noted to be significantly higher than normal controls who obtained 20/167.3±16.1under the same conditions. Under L and M cone isolating conditions, the largest Snellen E (20/2784) was beyond visibility, demonstrating the absence of L/M cone vision in the BCM subject.

Conclusions : The BCM subject demonstrated greater S-cone isolating visual acuity compared to normal controls. This is likely due to an increased density of S-cones at fixation, which was noted to be slightly offset from the fovea.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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