June 2020
Volume 61, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2020
Retinal manifestations of Lafora disease
Author Affiliations & Notes
  • Heather Heitkotter
    Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Rachel E Linderman
    Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Jenna Cava
    Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Erica N. Woertz
    Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Rebecca Mastey
    Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Phyllis Summerfelt
    Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Toco Yuen Ping Chui
    Ophthalmology, New York Ear and Eye Infirmary of Mount Sinai, New York, New York, United States
    Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York, United States
  • Richard B Rosen
    Ophthalmology, New York Ear and Eye Infirmary of Mount Sinai, New York, New York, United States
    Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York, United States
  • Emily J Patterson
    Institute of Ophthalmology, University College London, London, United Kingdom
  • Ajoy Vincent
    Ophthalmology & Vision Sciences, University of Toronto, Toronto, Ontario, Canada
  • Joseph Carroll
    Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
    Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
  • Berge A. Minassian
    Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, Texas, United States
  • Footnotes
    Commercial Relationships   Heather Heitkotter, None; Rachel Linderman, OptoVue (C); Jenna Cava, None; Erica Woertz, None; Rebecca Mastey, None; Phyllis Summerfelt, None; Toco Chui, None; Richard Rosen, None; Emily Patterson, None; Ajoy Vincent, Adverum Biotechnologies Inc (C); Joseph Carroll, AGTC (F), MeiraGTX (C), MeiraGTX (F), OptoVue (F), Translational Imaging Innovations (I); Berge Minassian, None
  • Footnotes
    Support  C06RR016511, T32EY014537, UL1TR001436, TL1TR001437, T32GM080202, CD-CL-0617-0727-HSC
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 5037. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Heather Heitkotter, Rachel E Linderman, Jenna Cava, Erica N. Woertz, Rebecca Mastey, Phyllis Summerfelt, Toco Yuen Ping Chui, Richard B Rosen, Emily J Patterson, Ajoy Vincent, Joseph Carroll, Berge A. Minassian; Retinal manifestations of Lafora disease. Invest. Ophthalmol. Vis. Sci. 2020;61(7):5037.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : Lafora disease is progressive myoclonus epilepsy caused by accumulation of insoluble polyglucosan aggregates throughout the body. As central nervous system disorders often have ocular manifestations that might be utilized for more accurate characterization of disease progression, we sought to characterize the retina of individuals with Lafora disease using non-invasive retinal imaging.

Methods : One eye from each of three individuals with Lafora disease was imaged with adaptive optics scanning light ophthalmoscopy (AOSLO). Optical coherence tomography (OCT) volume and line scans were also acquired to assess total retinal thickness, ganglion cell-inner plexiform layer (GCIPL) thickness, and outer nuclear layer + Henle fiber layer (ONL+) thickness. OCT angiography (OCTA) scans were acquired at the macula and optic nerve head (ONH).

Results : Not all data acquired from each subject was analyzable due to intermittent myoclonic seizures and some fixational instability. Two subjects with previous seizure activity showed at least 4 regions of the ETDRS grid with retinal thickness at the bottom 5% of normal limits, while one subject with no apparent symptoms had normal retinal thickness. The asymptomatic subject and one symptomatic subject had GCIPL and ONL+ thicknesses that were within normal limits.1 Foveal avascular zone area (OD: 0.33 mm2, OS: 0.36 mm2) and acircularity (OD: 1.12, OS: 1.19) of the asymptomatic subject was similar to control data previously reported,2 as well as ONH radial peripapillary capillary density in both eyes. All three subjects had parafoveal cone density estimates that were similar to previously published control data (Table 1).3 Nummular reflectivity puncta at the level of the RNFL were noted on AOSLO images in the macula and near the ONH in all three subjects.

Conclusions : We observed variable retinal structure measured with OCT, OCTA, and AOSLO in three individuals with Lafora disease, consistent with previous reports.4 Interestingly, nummular reflectivity within the inner retina on the AOSLO images was found in all three subjects. This phenotype does not appear to be associated with any particular disease but may represent a generalized neuro-degenerative process.5
1
PMID: 30398625
2PMID: 30280005
3PMID: 25515570
4PMID: 29907606
5PMID: 24894394

This is a 2020 ARVO Annual Meeting abstract.

 

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×