Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology a
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ORIGINAL PAPER
Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis Giulio Ruberto . Rosanna Guagliano . Donatella Barilla` . Margherita Bensi . Elisa Fazzi . Jessica Galli . Andrea Rossi . Cinzia Mazza . Federica Manzoni . Elisa Domenegati . Luciano Quaranta
Received: 10 December 2019 / Accepted: 16 May 2020 Ó Springer Nature B.V. 2020
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 nextgeneration sequencing or array-comparative genomic hybridization.
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10792-020-01432-2) contains supplementary material, which is available to authorized users. G. Ruberto (&) R. Guagliano D. Barilla` M. Bensi L. Quaranta Ophthalmic Clinic IRCCS San Matteo Hospital, P.zzale Golgi 19, 27100 Pavia, Italy e-mail: [email protected] E. Fazzi J. Galli A. Rossi Child Neurology and Psychiatry Unit, ASST Spedali Civili, Brescia, Italy E. Fazzi J. Galli Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
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. Keywords Array-comparative genomic hybridization Electroretinogram Inherited retinal dystrophy Next-generation sequencing Patterned visual evoked potentials Video recording
C. Mazza Medical Genetics Laboratory, Department of Pathology, ASST Spedali Civili, Brescia, Italy F. Manzoni Scientific Direction, Clinical Epidemiology and Biometry Unit, San Matteo Hospital Foundation, Pavia, Italy E. Domenegati Department of Anesthesiology and Reanimation, IRCCS San Matteo Hospital, Pavia, Italy
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Int Ophthalmol
Introduction Various retinal or cerebral disorders can cause visual impairment in children, with symptoms such as instable or absent fixation, eye movement disorders and nystagmus, which lead to an ophthalmic and neurologic assessment. Other disorders include inherited retinal dystrophies, congenital central nervous system infections and m
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