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Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Eleanor PalmerKarolina M StepienChristopher CampbellStephanie BartonChristos IosifidisArunabha GhoshAlexander BroomfieldAlison WoodallGisela WilcoxPanagiotis I SergouniotisGraeme C Black
Published in: Orphanet journal of rare diseases (2023)
Our findings highlight the importance of multidisciplinary care in families with gyrate atrophy. Secondary ophthalmic complications such as macular oedema and cataract formation are common. Management of affected individuals remains challenging due to the highly restrictive nature of the recommended diet and the limited evidence-base for current strategies.
Keyphrases
  • quality improvement
  • healthcare
  • palliative care
  • optical coherence tomography
  • physical activity
  • cataract surgery
  • weight loss
  • diabetic retinopathy
  • risk factors