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International Ophthalmology
Published in: International Ophthalmology 10/2020

01-10-2020 | Evoked Potential | Original Paper

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

Authors: Giulio Ruberto, Rosanna Guagliano, Donatella Barillà, Margherita Bensi, Elisa Fazzi, Jessica Galli, Andrea Rossi, Cinzia Mazza, Federica Manzoni, Elisa Domenegati, Luciano Quaranta

Published in: International Ophthalmology | Issue 10/2020

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Abstract

Purpose

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

Methods

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.

Results

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.

Conclusion

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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Metadata
Title
Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis
Authors
Giulio Ruberto
Rosanna Guagliano
Donatella Barillà
Margherita Bensi
Elisa Fazzi
Jessica Galli
Andrea Rossi
Cinzia Mazza
Federica Manzoni
Elisa Domenegati
Luciano Quaranta
Publication date
01-10-2020
Publisher
Springer Netherlands
Published in
International Ophthalmology / Issue 10/2020
Print ISSN: 0165-5701
Electronic ISSN: 1573-2630
DOI
https://doi.org/10.1007/s10792-020-01432-2

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