September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Multimodal investigation on inherited retinal dystrophies: an objective approach to describe disease presentation and progression
Author Affiliations & Notes
  • Lucia Ziccardi
    Ophthalmology, IRCCS "G.B. Bietti" Eye Foundation, Rome, Italy, Italy
  • Daniela Giannini
    Ophthalmology, IRCCS "G.B. Bietti" Eye Foundation, Rome, Italy, Italy
  • Giuseppe Lombardo
    Ist. per i processi Chimico-FIsici CNR-IPCF, Consiglio Nazionale delle Ricerche, Messina, Italy
    Vision Engineering Italy, srl, Rome, Italy
  • sebastiano serrao
    Ophthalmology, IRCCS "G.B. Bietti" Eye Foundation, Rome, Italy, Italy
  • Monica Varano
    Ophthalmology, IRCCS "G.B. Bietti" Eye Foundation, Rome, Italy, Italy
  • Alice Bruson
    MAGI Human Medical Genetics Institute, Rovereto, Italy
  • Matteo Bertelli
    MAGI Human Medical Genetics Institute, Rovereto, Italy
  • Marco Lombardo
    Ophthalmology, IRCCS "G.B. Bietti" Eye Foundation, Rome, Italy, Italy
  • Footnotes
    Commercial Relationships   Lucia Ziccardi, None; Daniela Giannini, None; Giuseppe Lombardo, None; sebastiano serrao, None; Monica Varano, Allergan (C), Bayer (C), Novartis (C), SIFI (C); Alice Bruson, None; Matteo Bertelli, None; Marco Lombardo, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 3600. doi:
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      Lucia Ziccardi, Daniela Giannini, Giuseppe Lombardo, sebastiano serrao, Monica Varano, Alice Bruson, Matteo Bertelli, Marco Lombardo; Multimodal investigation on inherited retinal dystrophies: an objective approach to describe disease presentation and progression. Invest. Ophthalmol. Vis. Sci. 2016;57(12):3600.

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

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Abstract

Purpose : To present an objective approach to study the structure and function of the cones in inherited retinal dystrophies

Methods : Six patients suffering from inherited retinal dystrophies were recruited in a prospective study for monitoring structure and function of the cones. High-resolution images of the cone mosaic were obtained with a flood-illumination adaptive optics (AO) retinal camera. Moreover, objective assessment of the eye included Best Corrected Visual acuity (BCVA), Contrast Sensitivity Function (CSF), microperimetry (MP1), Goldmann visual field, full-field and multifocal electroretinography (mfERG), combined scanning laser ophthalmoscope (SLO) and spectral domain-optical coherence tomography (SD-OCT) imaging

Results : The six probands had a diagnosis, confirmed by genetic testing, of adult onset foveomacular vitelliform dystrophy (AOFVD), Best's macular dystrophy (BVMD), Retinitis Pigmentosa (RP), Stargardt's disease (STGD), Occult Macular Dystrophy (OMD) and Cone Dystrophy (CD). The combined analysis of the cone mosaic in AO images, the ellipsoid zone in SD-OCT images and the mfERG rings allowed to classify and monitor each inherited retinal dystrophy. AO image analysis demonstrated severe cone loss with respect to controls in eyes with asymmetric STGD disease presentation and in absence of visual complaints. AO was reliable to monitor the changes of the cone mosaic at a cellular level, whereas psychophysical tests were unable to detect changes in visual function in RP and BVMD. Analysis of both AO and SD-OCT images provided reliable biomarkers to unveil the abnormalities of the cones in a case of OMD. Analysis of SD-OCT images and mfERG recordings provided abnormal measures with respect to controls in patients affected by AOFVD, BVMD and CD

Conclusions : The multimodal approach for investigating the structure and function of the cones allows to detect and track their pathological changes with high accuracy over time in patients affected by degenerative retinal diseases. The quantitative assessment of cone survival or loss, based on AO imaging, is valuable for monitoring disease progression at a cellular level and to provide evidence of slow or minor changes in degenerative processes, which show high variability of the functional parameters

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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