Retinal dysfunction characterizes subtypes of dominant optic atrophy

M.L. Cascavilla, V. Parisi, G. Triolo, L. Ziccardi, E. Borrelli, A. Di Renzo, N. Balducci, C. Lamperti, S. Bianchi Marzoli, F. Darvizeh, A.A. Sadun, V. Carelli, F. Bandello, P. Barboni

Research output: Contribution to journalArticlepeer-review


Purpose: To assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation. Methods: Multifocal electroretinogram (mfERG) was recorded in 18 DOA patients (DOA group, 35 eyes) and 25 age-matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (DOA-M group, 11 eyes) and mutation causing haploinsufficiency (DOA-H group, 24 eyes). The mfERG N1-P1 response amplitude density (RAD) has been evaluated in five annular retinal areas with different eccentricity from the fovea (ring 1: 0–5 degrees, R1; ring 2: 5–10 degrees, R2; ring 3: 10–15 degrees, R3; ring 4: 15–20 degrees, R4; and ring 5: 20–25 degrees, R5) and in eight sectors on the basis of the retinal topography: temporal–superior (TS), temporal–inferior (TI), nasal–superior (NS) and nasal–inferior (NI), temporal (T), superior (S), nasal (N) and inferior (I). Results: Compared to controls, DOA group revealed a significant reduction in N1-P1 RADs values in R1-R4 rings and in TI, NS and N sectors [analysis of variance (ANOVA), p 
Original languageEnglish
Pages (from-to)e156-e163
JournalActa Ophthalmologica
Issue number2
Publication statusPublished - 2018


  • dominant optic atrophy
  • multifocal electroretinogram
  • OPA1 gene
  • photoreceptors
  • retinal topography
  • adolescent
  • adult
  • aged
  • Article
  • autosomal dominant optic atrophy
  • child
  • controlled study
  • electroretinogram
  • gene
  • genotype phenotype correlation
  • haploinsufficiency
  • human
  • major clinical study
  • missense mutation
  • preganglionic retinal impairment
  • priority journal
  • retina disease
  • retina fovea
  • electroretinography
  • female
  • genetics
  • male
  • middle aged
  • mutation
  • pathology
  • pathophysiology
  • retina
  • retina ganglion cell
  • visual field
  • guanosine triphosphatase
  • OPA1 protein, human
  • Adolescent
  • Adult
  • Aged
  • Child
  • Electroretinography
  • Female
  • GTP Phosphohydrolases
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Optic Atrophy, Autosomal Dominant
  • Retina
  • Retinal Diseases
  • Retinal Ganglion Cells
  • Visual Fields


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