Macular impairment in mitochondrial diseases: a potential biomarker of disease severity

Guido Alessandro Primiano, Edoardo Abed, Giovanni Corbo, Angelo Maria Minnella, Serenella Servidei, Catello Vollono, Maria Cristina Savastano, Benedetto Falsini

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review


The high-energy demands of the retina are thought to contribute to its particular vulnerability to mitochondrial dysfunction. Photoreceptors are the cells with the higher oxygen consumption within the retina, and among these, the cones contain more mitochondria and have a higher energy demand than rods. A cohort of twenty-two patients with genetically-defined mitochondrial diseases (MDs) were enrolled to determine if the macula is functionally and anatomically impaired in these metabolic disorders. Visual acuity and fERG amplitude of patients with primary mitochondrial dysfunction were reduced compared to controls. Furthermore, SD-OCT layer segmentation showed a reduction of retinal and outer nuclear layer (ONL) volume in the macula of the patients. fERG amplitude showed a positive correlation with both ONL volume and thickness. A negative relationship was noted between fERG amplitude and disease severity assessed with Newcastle Mitochondrial Disease Adult Scale. In conclusion, MDs are associated with functional and anatomical alteration of macular cone system, characterized by its strong correlation with clinical disease severity suggesting a role as a potential biomarker of primary mitochondrial disorders.
Lingua originaleEnglish
pagine (da-a)8554-N/A
Numero di pagine7
RivistaScientific Reports
Stato di pubblicazionePubblicato - 2020


  • Adult
  • Biomarkers
  • Cohort Studies
  • Female
  • Humans
  • Macula Lutea
  • Macular Degeneration
  • Male
  • Middle Aged
  • Mitochondrial Diseases
  • Retina
  • Retinal Cone Photoreceptor Cells
  • Severity of Illness Index
  • Visual Acuity
  • Young Adult


Entra nei temi di ricerca di 'Macular impairment in mitochondrial diseases: a potential biomarker of disease severity'. Insieme formano una fingerprint unica.

Cita questo