June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
High-resolution imaging of cone photoreceptors and retinal pigment epithelial cells in Chediak-Higashi Syndrome
Author Affiliations & Notes
  • Tao Liu
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Nancy Aguilera
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Andrew J. Bower
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Jianfei Liu
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Laryssa A Huryn
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Wadih M Zein
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Wendy J. Introne
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Robert B Hufnagel
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Brian P. Brooks
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Johnny Tam
    National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States
  • Footnotes
    Commercial Relationships   Tao Liu, None; Nancy Aguilera, None; Andrew Bower, None; Jianfei Liu, None; Laryssa Huryn, None; Wadih Zein, None; Wendy Introne, None; Robert Hufnagel, None; Brian Brooks, None; Johnny Tam, None
  • Footnotes
    Support  Intramural Research Program of the National Institutes of Health; Alcon Research Institute
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 1903. doi:
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      Tao Liu, Nancy Aguilera, Andrew J. Bower, Jianfei Liu, Laryssa A Huryn, Wadih M Zein, Wendy J. Introne, Robert B Hufnagel, Brian P. Brooks, Johnny Tam; High-resolution imaging of cone photoreceptors and retinal pigment epithelial cells in Chediak-Higashi Syndrome. Invest. Ophthalmol. Vis. Sci. 2021;62(8):1903.

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

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Abstract

Purpose : Chediak-Higashi Syndrome (CHS) is a rare inherited disorder with ophthalmological manifestations that include reduced pigmentation and foveal hypoplasia. We characterized the status of cone photoreceptor and retinal pigment epithelial (RPE) cells in CHS in comparison with foveal hypoplasia arising from oculocutaneous albinism type 1 (OCA1) and Waardenburg syndrome type 2A (WS2A).

Methods : Patients were recruited for high resolution retinal imaging (CHS, 2 eyes from 2 patients; OCA1, 3 eyes from 3 patients; WS2A, 6 eyes from 3 patients). Adaptive optics (AO) imaging was performed from which measurements of cone density (all eyes) and RPE cell-to-cell spacing (CHS and OCA1, 5 eyes from 5 patients) were obtained over a range of retinal eccentricities from the fovea out to ~5 mm. Foveal hypoplasia grades were assigned according to optical coherence tomography (Ophthalmology 118:1653–1660, 2011) and compared to peak cone density wherever possible.

Results : There was considerable variation in the number of cones and RPE cells near the fovea as observed using AO. Cone density near the fovea (eccentricity < 1 mm) was reduced inversely with the foveal hypoplasia grade (IOVS 55:4186-4198, 2014) which ranged from 1 to 3 (lower peak cone densities seen in higher foveal hypoplasia grades). At larger eccentricities, cone densities were mostly normal, with no apparent differences observed between CHS, OCA1, WS2A, or published normative data. RPE cells in CHS imaged using AO-ICG (IOVS 57:4376-4384, 2016) exhibited the characteristic heterogeneous fluorescence signal, similar to OCA1 and healthy controls. RPE cell spacing near the fovea was variable (either within normal ranges or slightly enlarged), with no apparent differences between CHS and OCA1. At larger eccentricities, RPE cell spacing appeared to be normal.

Conclusions : Our preliminary data shows the in vivo status of cone photoreceptors and RPE cells suggesting that foveal hypoplasia associated with CHS, OCA1, and WS2A result in anatomically consistent reductions in peak cone density pursuant to the degree of hypoplasia. Although impacted to a lesser degree, the RPE cells may also play a role in foveal specialization. Additional patients are needed to further explore these findings.

This is a 2021 ARVO Annual Meeting abstract.

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