June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders
Author Affiliations & Notes
  • Yin-Hsi Chang
    Department of Ophthalmology, Chang Gung Medical Foundation, Taoyuan, Taiwan
  • Yu-Chuan Kang
    Department of Ophthalmology, Chang Gung Medical Foundation, Taoyuan, Taiwan
  • Pei-Kang Liu
    Department of Ophthalmology, Edward S Harkness Eye Institute, New York, New York, United States
  • Sarah Levi
    Department of Ophthalmology, Edward S Harkness Eye Institute, New York, New York, United States
  • Hung-Xuan Wang
    Department of Ophthalmology, Edward S Harkness Eye Institute, New York, New York, United States
  • Yun-Ju Tseng
    Division of Medical genetics, 3billion Inc., Korea (the Republic of)
  • Go Hun Seo
    Division of Medical genetics, 3billion Inc., Korea (the Republic of)
  • Hane Lee
    Division of Medical genetics, 3billion Inc., Korea (the Republic of)
  • Lung-Kun Yeh
    Department of Ophthalmology, Chang Gung Medical Foundation, Taoyuan, Taiwan
  • Kuan-Jen Chen
    Department of Ophthalmology, Chang Gung Medical Foundation, Taoyuan, Taiwan
  • Wei-Chi Wu
    Department of Ophthalmology, Chang Gung Medical Foundation, Taoyuan, Taiwan
  • Chi-Chun Lai
    Chang Gung Memorial Hospital Keelung Branch Library, Keelung, Taiwan
  • Laura Liu
    Department of Ophthalmology, Chang Gung Medical Foundation, Taoyuan, Taiwan
  • Nan-Kai Wang
    Department of Ophthalmology, Edward S Harkness Eye Institute, New York, New York, United States
  • Footnotes
    Commercial Relationships   Yin-Hsi Chang None; Yu-Chuan Kang None; Pei-Kang Liu None; Sarah Levi None; Hung-Xuan Wang None; Yun-Ju Tseng None; Go Hun Seo None; Hane Lee None; Lung-Kun Yeh None; Kuan-Jen Chen None; Wei-Chi Wu None; Chi-Chun Lai None; Laura Liu None; Nan-Kai Wang None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 4297. doi:
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      Yin-Hsi Chang, Yu-Chuan Kang, Pei-Kang Liu, Sarah Levi, Hung-Xuan Wang, Yun-Ju Tseng, Go Hun Seo, Hane Lee, Lung-Kun Yeh, Kuan-Jen Chen, Wei-Chi Wu, Chi-Chun Lai, Laura Liu, Nan-Kai Wang; Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders. Invest. Ophthalmol. Vis. Sci. 2022;63(7):4297.

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

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Abstract

Purpose : To compare the photoreceptors’ (PRs) manifestations in three hereditary optic neuropathies affected by primary mitochondrial dysfunction and discuss whether the retinal ganglion cells (RGCs) or the PRs are preferentially affected.

Methods : A retrospective analysis of patients with genetically-confirmed diagnoses of optic neuropathies associated with mitochondrial dysfunction was performed. This cohort included Leber’s hereditary optic neuropathy (LHON), autosomal dominant optic atrophy type 1 (OPA1), and optic atrophy type 13 (OPA13). Patient chart evaluation included clinical characteristics, best-corrected visual acuity (BCVA), fundus photography, spectral domain-optical coherence tomography (SD-OCT), electroretinogram (ERG), and visual evoked potential (VEP) data.

Results : A total of 7 patients with LHON, 6 with OPA1 and 1 with OPA13 were included from a tertiary medical center. Thirteen of 14 individuals were male. The average BCVA at diagnosis was 20/285 and 20/500 in the right and left eyes, respectively. Five out of 7 patients with LHON, and 3 out of 6 patients with OPA1 also showed a mild amplitude reduction or delayed latency on light-adapted ERG and 30Hz flicker responses; however, SD-OCT imaging did not show correlated PR abnormalities. Notably, a 7-year follow up of a patient with OPA13 revealed degeneration of RGCs prior to the degeneration of PRs. Follow-up data also demonstrated continuous loss of cone outer segment tips on SD-OCT imaging.

Conclusions : RGCs are, in general, affected by mitochondrial dysfunction, whereas variable PR dysfunction exists in patients with LHON and OPA1, especially with respect to the cone responses. Involvement of PRs are particularly evident in OPA13 after RGC degenerations.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

 

Retinal images in patient 14 with OPA13 at 16 and 23 years old.

Retinal images in patient 14 with OPA13 at 16 and 23 years old.

 

Electrophysiological studies in patient 14 with OPA13 at 16 and 23 years old.

Electrophysiological studies in patient 14 with OPA13 at 16 and 23 years old.

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