June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Ocular Characteristic in a Cohort of Neuronal Ceroid Lipofuscinoses/ Batten Disease Patients
Author Affiliations & Notes
  • Elisa Eleanor Cornish
    The University of Sydney Save Sight Institute, Sydney, New South Wales, Australia
  • Dhimas Hari Sakti
    The University of Sydney Save Sight Institute, Sydney, New South Wales, Australia
  • Clare Fraser
    The University of Sydney Save Sight Institute, Sydney, New South Wales, Australia
  • Trent Sandercoe
    The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia
  • Michael M Jones
    The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia
  • Neil A Rowe
    The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia
  • Robyn V Jamieson
    Children's Medical Research Institute, Westmead, New South Wales, Australia
  • John R Grigg
    The University of Sydney Save Sight Institute, Sydney, New South Wales, Australia
    Children's Medical Research Institute, Westmead, New South Wales, Australia
  • Footnotes
    Commercial Relationships   Elisa Cornish, None; Dhimas Hari Sakti, None; Clare Fraser, None; Trent Sandercoe, None; Michael Jones, None; Neil Rowe, None; Robyn Jamieson, Novartis (C); John Grigg, Novartis (C)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 618. doi:
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      Elisa Eleanor Cornish, Dhimas Hari Sakti, Clare Fraser, Trent Sandercoe, Michael M Jones, Neil A Rowe, Robyn V Jamieson, John R Grigg; Ocular Characteristic in a Cohort of Neuronal Ceroid Lipofuscinoses/ Batten Disease Patients. Invest. Ophthalmol. Vis. Sci. 2021;62(8):618.

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

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Abstract

Purpose : Understanding the ocular manifestation of Neuronal Ceroid Lipofuscin (NCL) (Batten disease) is crucial to initiate investigation of the diagnosis as visual decline is often the presenting feature in NCL. This study reports the electrophysiological and multimodal imaging that provides clues to suspect NCL and urgent neurologic and genetic referral.

Methods : Retrospective review of six Batten patients. Visual acuity (VA), electroretinogram (ERG), ultra wide-field (UWF) fundus photography and autofluorescence (FAF), and ocular coherence tomography (OCT) were analyzed.

Results : Six unrelated children, 4 female and 2 male ranging from 4.6 to 11.7 years old with 5 CLN3 mutation and CLN5 mutation. The patients from the cohort had previous diagnosis of speech delay, autism, attention deficit and hyperactivity disorder prior to their first Ophthalmic review. Estimated interval between eye complaint and genetic result was 22.9±14.9 months. VAs ranged from 0.18 to 1.00 logMAR with follow up (FU) obtainable from 3 patients. Two CLN3 patients and 1 CLN5 patient had 0.81±0.35 logMAR and 0.36±0.02 logMAR loss per year during 2.35 and 4.87 years FU respectively.
Electronegative ERGs were identified in each patient. Bull’s eye maculopathies were common with hyperAF ring surrounding hypoAF fovea on FAF. Macular OCT findings were schitic changes (1 patients) and ellipsoid zone (EZ) loss at the fovea (4 patients).

Conclusions : While VAs were variable, macular disruption and electronegative ERG were consistent across the NCL cohort. These macular OCT and ERG findings provide strong evidence to initiate further investigations including genetic testing for NCL.

This is a 2021 ARVO Annual Meeting abstract.

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