June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression of rod-cone disease
Author Affiliations & Notes
  • Carol Weigel DiFranco
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
  • Jason Comander
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
  • Kit Green Sanderson
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
    University of Toronto, Toronto, Ontario, Canada
  • Emily Place
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
  • Matthew Maher
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
    Mass General Brigham Inc, Boston, Massachusetts, United States
  • Erin Zampaglione
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
  • Yan Zhao
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
  • Rachel M Huckfeldt
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
  • Kinga Maria Bujakowska
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
  • Eric A Pierce
    Massachusetts Eye and Ear, Boston, Massachusetts, United States
  • Footnotes
    Commercial Relationships   Carol Weigel DiFranco None; Jason Comander None; Kit Sanderson None; Emily Place None; Matthew Maher None; Erin Zampaglione None; Yan Zhao None; Rachel Huckfeldt None; Kinga Bujakowska None; Eric Pierce None
  • Footnotes
    Support  NIH Grant U10-EY02014
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 4446. doi:
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      Carol Weigel DiFranco, Jason Comander, Kit Green Sanderson, Emily Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M Huckfeldt, Kinga Maria Bujakowska, Eric A Pierce; Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression of rod-cone disease. Invest. Ophthalmol. Vis. Sci. 2023;64(8):4446.

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

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Abstract

Purpose : A previous randomized clinical trial indicated that vitamin A supplementation had a beneficial effect on the progression of retinitis pigementosa (RP), while vitamin E had an adverse effect. Sequencing of banked DNA samples from subjects who participated in that trial provided the opportunity to assess the impact of genotype on disease progression and to determine if certain genotypes responded preferentially to vitamin supplementation..

Methods :
This research complied with the Declaration of Helsinki and was approved by the Institutional Review Board of Mass Eye & Ear. Subjects enrolled in the trial were randomized to 1 of 4 groups corresponding to 3 different levels of treatement or a control group. Clincial data including full field electrogram (ERG) recordings were collected yearly over 4-6 years. Cone flicker ERG amplitudes and implicit times to 30 Hz flashes were obtained using narrow bandpass filtering and computer averaging.Regression models were used to determine the effects of genotype, baseline cone flicker implicit time, and vitamin A/E supplementation on the progression rate of cone ERG amplitude. Stored DNA samples were analyzed with the Genetic Eye Disease (GEDi) panel of all known inherited retinal degeneraion (IRD) disease genes.

Results : Genetic and clinical data was available for 799 study participants. The genetic solution rate was 587/765 (77%) of sequenced samples.
Combining genetic solutions with ERG measurements showed natural history of severity and progression among different genetic subtypes of RP. For example, patients with EYS-associated IRD experience more rapid disease progression than patients with other genetic forms of RP. Baseline ERG 30 Hz flicker implicit time was a strong independent predictor of progression rate. Using additional data and baseline implicit time as a predictor, the deleterious effect of vitamin E was still present. The effect of vitamin A on progression in the cohort as a whole was not detected with or without data from subsequent related clincial trials.

Conclusions : Overall, genetic subtype and implicit time have significant predictive power for rate of progression which is useful prognotically. While vitamin E supplementation should still be avoided, these data do not support a generalized neuroprotective effect of vitamin A.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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