June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Multimodal investigation in a pediatric population affected by retinal disorders
Author Affiliations & Notes
  • Lucia Ziccardi
    Neurophthalmology Unit, Bietti Eye Foundation IRCCS, Rome, Italy
  • Daniela Giannini
    Fondazione Bietti, Rome, Italy
  • Giuseppe Lombardo
    CNR-IPCF, Messina, Italy
  • sebastiano serrao
    Fondazione Bietti, Rome, Italy
  • Paolo Esposito Veneruso
    GI.MA Eyecare Center, Naples, Italy
  • Adriano Magli
    Ophthalmology, University of Salerno, Salerno, Italy
  • Vincenzo Parisi
    Neurophthalmology Unit, Bietti Eye Foundation IRCCS, Rome, Italy
  • Matteo Bertelli
    MAGI's Lab, Rovereto, Italy
  • Marco Lombardo
    Fondazione Bietti, Rome, Italy
  • Footnotes
    Commercial Relationships   Lucia Ziccardi, None; Daniela Giannini, None; Giuseppe Lombardo, None; sebastiano serrao, None; Paolo Esposito Veneruso, None; Adriano Magli, None; Vincenzo Parisi, None; Matteo Bertelli, None; Marco Lombardo, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 5863. doi:
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      Lucia Ziccardi, Daniela Giannini, Giuseppe Lombardo, sebastiano serrao, Paolo Esposito Veneruso, Adriano Magli, Vincenzo Parisi, Matteo Bertelli, Marco Lombardo; Multimodal investigation in a pediatric population affected by retinal disorders. Invest. Ophthalmol. Vis. Sci. 2017;58(8):5863.

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

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Purpose : To investigate the functional and microstructural retinal features in a pediatric population with retinal disorders including inherited dystrophies, by using a multimodal instrumental methodological approach.

Methods : Thirteen children (mean age 11,23±3,76 years, ranging from 7 to 18 years) with retinal disorders including Best’s macular dystrophy (BVMD), retinitis pigmentosa (RP), Stargardt’s disease (STGD), X-linked retinoschisis (XLRS), cone-rod dystrophy (CRD), fovea plana and juvenile macular drusen were recruited in the study. Six children (age 11,2±2,1 years, ranging from 7 to 15 years) were enrolled as controls. All subjects underwent high-resolution retinal imaging using a flood-illumination adaptive optics (AO) retinal camera, combined scanning laser ophthalmoscope (SLO) and spectral domain-optical coherence tomography (SD-OCT). Functional measurements were acquired by testing visual acuity (BCVA), contrast sensitivity function (CSF), Goldmann visual field or automated perimetry, full-field and multifocal electroretinography (mfERG).

Results : The combined analysis of the cone mosaic and the outer retinal layers in AO and SD-OCT images respectively, provided significant information on the integrity of the photoreceptor mosaic in children. The functional measurements, especially if combined with mfERG ring analysis, permitted to detect and establish a diagnosis of a wide spectrum of inherited retinal dystrophies. The clinical diagnosis was confirmed by genetic testing. The AO analysis demonstrated cone loss with respect to controls in STGD, RP and BVMD eyes. In the cases with fovea plana and juvenile macular drusen, AO imaging was reliable to detect small entity changes of the cone mosaic. SD-OCT and mfERG analysis showed abnormalities of the integrity of the retinal layers in children with XLRS.

Conclusions : The multimodal approach for assessing retinal microstructures and function in children affected by degenerative diseases allows detecting pathological retinal changes, at cellular level, with high accuracy.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.


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