Opa1 dominant optic atrophy: diagnostic approach in the pediatric population

HIGHLIGHTS

  • who: Natalia Arruti and colleagues from the Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, Madrid, Spain European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, Madrid, Spain have published the research: OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population, in the Journal: (JOURNAL) of 20/Oct/2022
  • what: The aim of this study was to establish whether there is a genotype-phenotype correlation in patients with DOA according to the variants detected within and between families.
  • how: These data were compared with the own pediatric patient . . .

     

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