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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)
To characterize the retinal findings and analyze the molecular basis in 3 patients with Heimler syndrome
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.
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.
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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