July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Heimler syndrome with macular dystrophy caused by novel PEX6 gene variants
Author Affiliations & Notes
  • Benjamin Bakall
    Ophthalmology, University of Arizona College of Medicine Phoenix, Phoenix, Arizona, United States
    Associated Retina Consultants, Phoenix, Arizona, United States
  • James Singer
    Associated Retina Consultants, Phoenix, Arizona, United States
    Iowa Retina Consultants, West Des Moines, Iowa, United States
  • Jeaneen L Andorf
    Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Edwin M Stone
    Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Mary Champion
    Associated Retina Consultants, Phoenix, Arizona, United States
    Department of Ophthalmology, The University of Kansas, Kansas City, Kansas, United States
  • Footnotes
    Commercial Relationships   Benjamin Bakall, None; James Singer, None; Jeaneen Andorf, None; Edwin Stone, None; Mary Champion, None
  • Footnotes
    Support  The Clive H. Sell M.D. Vision Foundation and the Stephen A. Wynn Foundation.
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 6043. doi:https://doi.org/
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    • Get Citation

      Benjamin Bakall, James Singer, Jeaneen L Andorf, Edwin M Stone, Mary Champion; Heimler syndrome with macular dystrophy caused by novel PEX6 gene variants. Invest. Ophthalmol. Vis. Sci. 2018;59(9):6043. doi: https://doi.org/.

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

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Abstract

Purpose : To characterize the retinal findings and analyze the molecular basis in 3 patients with Heimler syndrome

Methods : A retrospective case-series analysis was performed for three patients with Heimler syndrome. Clinical evaluations included eye examination, visual acuity testing, color fundus photography, fluorescein angiography, spectral-domain optical coherence tomography, kinetic visual field testing, color vision testing, and electroretinography (ERG). Molecular analysis was performed to confirm the diagnosis of Heimler syndrome.

Results : Three individuals from two families had a characteristic pigmentary retinal dystrophy affecting the posterior pole with relative sparing of the peripheral retina. A great variation was observed in the presence of macular edema and the visual acuity ranged from 20/15 to 20/150. Associated systemic findings were early onset sensorineural hearing and amelogenesis imperfecta of the permanent teeth. ERG indicated normal photopic and scotopic responses. Novel compound heterozygotic variants were identified in the PEX6 gene.

Conclusions : Pathogenic variants in the PEX genes are responsible for a spectrum of Peroxisome Biogenesis Disorders causing multisystem dysfunction. Hypomorphic variants cause pigmentary retinopathy associated with Heimler syndrome with a variable clinical presentation.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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