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Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease.

Rosario Alfio Umberto LizzioEdoardo MonfriniSimona RomanoGloria BresciaStela VujosevicMatteo SacchiAlessio Di FonzoPaolo Nucci
Published in: European journal of ophthalmology (2022)
It may suggest a non-genetic etiology for this disorder. This represents, to the best of our knowledge, the first case of genetic analysis of monozygotic twins, one of whom is affected by Coats disease. Further studies are warranted, including performing genetic analysis directly on retinal biopsy tissue.
Keyphrases
  • genome wide
  • optical coherence tomography
  • gestational age
  • diabetic retinopathy
  • optic nerve