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

Int Ophthalmol. 2020 Oct;40(10):2523-2534. doi: 10.1007/s10792-020-01432-2. Epub 2020 Jun 7.


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.

Keywords: Array-comparative genomic hybridization; Electroretinogram; Inherited retinal dystrophy; Next-generation sequencing; Patterned visual evoked potentials; Video recording.

MeSH terms

  • Child
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Electrophysiology
  • Electroretinography
  • Humans
  • Infant
  • Mutation
  • Nicotinamide-Nucleotide Adenylyltransferase* / genetics
  • Pedigree
  • Retinal Dystrophies* / diagnosis
  • Retinal Dystrophies* / genetics
  • Video Recording


  • NMNAT1 protein, human
  • Nicotinamide-Nucleotide Adenylyltransferase