Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis



To present a detailed study matching functional response and video imaging with genetic analysis in children suspected of inherited retinal dystrophy (IRD).


Sixteen children underwent fundus examination via video recording (Heine Omega 500 indirect ophthalmoscope with DV1 camera) and electroretinogram (ERG) under general anesthesia to investigate the cause of suspected low vision. The patients [median age 12 (interquartile range 8–57.5) months] had associated genetic analysis performed with next-generation sequencing or array-comparative genomic hybridization.


Four children had potential pathogenic variants in genes involved in Leber congenital amaurosis and Joubert syndrome (NMNAT1, CEP290, KCNJ13, IMPDH1); 1 child had a 16p11.2 microdeletion and 1 in 2q22.1. The ERG was altered in 6 patients, fundus imaging showed serious abnormality matching an IRD in 7 children, and less severe fundus alterations were found in 2 subjects.


Fundus imaging associated with ERG may be significant in IRD diagnosis and visual impairment prognosis, alongside genetic analysis and therapy in selected cases.

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Data availability

The datasets generated and analyzed during the current study are available from the corresponding author on reasonable request.


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Support for this assistance was funded by HEINE OptotechniK GmbH & Co. Kg.

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Corresponding author

Correspondence to Giulio Ruberto.

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Conflict of interest

Giulio Ruberto, Rosanna Guagliano, Donatella Barillà, Margherita Bensi, Elisa Fazzi, Jessica Galli, Andrea Rossi, Cinzia Mazza, Federica Manzoni, Elisa Domenegati and Luciano Quaranta certify that they have not any financial or non-financial competing interest in the subject matter or material discussed in this manuscript.

Ethical approval

All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, take responsibility for the integrity of the work as a whole and have given their approval for this version to be published. Editorial assistance in the preparation of this article was provided by Ruth Harper, The Translation Lab Ltd.

Informed consent

The relatives of the children signed an informed consent to the use of their data, as required by the San Matteo hospital ethical committee, according to directives of the Italian ministry of Health, February 8 2013 act, and regional act June 25 2013, n. 5493, n.3 C.d.A. 0131. Springer’s policy concerning informed consent has been followed.

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Video Fundus recording in the child from Figure 1, with a bilateral macular coloboma. In the left eye, a peripheral coloboma also appears. Mutations in NMNAT1, Leber Congenital Amaurosis (WMV 6161 kb)

Video Fundus recording in the child from Figure 1, with a bilateral macular coloboma. In the left eye, a peripheral coloboma also appears. Mutations in NMNAT1, Leber Congenital Amaurosis (WMV 6161 kb)

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Ruberto, G., Guagliano, R., Barillà, D. et al. Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis. Int Ophthalmol (2020).

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  • Array-comparative genomic hybridization
  • Electroretinogram
  • Inherited retinal dystrophy
  • Next-generation sequencing
  • Patterned visual evoked potentials
  • Video recording