July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Morpho-functional links in Usher Syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings
Author Affiliations & Notes
  • Nina Mustafic
    Save Sight Institute, The University of Sydney, Sydney, New South Wales, Australia
  • Federica Ristoldo
    Save Sight Institute, The University of Sydney, Sydney, New South Wales, Australia
  • Alessandro Invernizzi
    Save Sight Institute, The University of Sydney, Sydney, New South Wales, Australia
    Department of Biomedical and Clinical Science "L. Sacco", Luigi Sacco Hospital, University of Milan, Milan, Italy
  • Robyn V Jamieson
    Children's Medical Research Institute, The University of Sydney, Sydney, New South Wales, Australia
  • John R Grigg
    Save Sight Institute, The University of Sydney, Sydney, New South Wales, Australia
  • Footnotes
    Commercial Relationships   Nina Mustafic, None; Federica Ristoldo, None; Alessandro Invernizzi, Allergan (R); Robyn Jamieson, None; John Grigg, None
  • Footnotes
    Support  NHMRC Centre for Research Excellence Grant (APP1116360)
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 49. doi:
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      Nina Mustafic, Federica Ristoldo, Alessandro Invernizzi, Robyn V Jamieson, John R Grigg; Morpho-functional links in Usher Syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings. Invest. Ophthalmol. Vis. Sci. 2018;59(9):49.

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

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Abstract

Purpose : To investigate ultra-widefield autofluorescence (UW-FAF) and optical coherence tomography (OCT) findings in Usher syndrome (USH) and to correlate them with functional measurements including visual acuity (VA), full field electroretinogram (ffERG) and pattern electroretinogram (PERG).

Methods : Clinical records from 2012 to 2017 from a referring center were reviewed. Patients diagnosed with USH were selected. Clinical data including age, gender, VA and molecular genetic results were recorded. Results of ffERG and PERG were collected. UW-FAF images were qualitative graded to identify hypo/hyper fluorescence patterns in the peripheral fundus (defined as the retina beyond the vascular arcades). Macular OCT scans were assessed to identify the presence of cystoid macular edema (CME) and the linear extent of retina with preserved outer retinal layers (macular island). Macular thickness (MT) was calculated as the average thickness of the ETDRS map as generated by macular OCT volumes. UW-FAF patterns and OCT features were correlated with functional measurements.

Results : Thirty-six eyes from 18 subjects (10 males, mean age 31, range 9-65) were included. Genetic results were available for 6 patients with USH2A and MY07A being identified in 3 patients each. Four patterns of changes were identified on UW-FAF (granular 55%, annular 11%, bone spicule 17% and patchy 17%). CME was present in 41.7% of eyes. Mean MT was 271 ± 35 mm. Mean foveal island extent was 2405 ± 1528 mm. Mean VA was 0.22 ± 0.3 LogMAR. Eyes with granular pattern had better VA compared to those with annular and patchy (p<0.04 and p<0.0001 respectively). Patients with Granular pattern were younger than those with other patterns (all p<0.0001). Macular island extent correlated with VA (r=-0.69, p<0.0001), PERG P50 (r=0.49, p= 0.004) and PERG N95 (r=-0.47, p=0.007). MT showed a strong correlation with VA (r=-0.78, p<0.0001). VA was not different in patients with and without CMO.

Conclusions : Structural changes identified on OCT and UW-FAF strongly correlated with visual function measures including VA, and PERG parameters. This study identified a set of structural and functional parameters that could provide strong measures for natural history analysis and represent outcome biomarkers in therapeutic clinical trials for patients diagnosed with USH.

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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