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Instagram as a vehicle to promote disease awareness and medical education in #retinaldystrophies
  1. João Pedro Marques1,2,3
  1. 1Ophthalmology, Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal
  2. 2University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal
  3. 3Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal
  1. Correspondence to Dr João Pedro Marques, Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra 3000-075, Portugal; marquesjoaopedro{at}gmail.com

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Inherited retinal dystrophies/degenerations (IRDs) are a clinically and genetically heterogenous group of rare eye diseases. Despite their low prevalence (~1:3000 individuals), IRDs are an important cause of severe visual impairment and blindness in children and young adults. Remarkable progress in understanding the genetics of IRDs resulted in the identification of roughly 300 disease-causing genes (https://sph.uth.edu/retnet/). However, this wealth of information is only slowly being translated into genetic diagnoses for individual patients, as significant barriers to testing still exist all over the world. Recently, the subretinal administration of voretigene neparvovec has been approved by the Food and Drug Administration and the European Medicines Agency as a one-time gene augmentation therapy to treat RPE65-associated retinal degeneration. Improved light sensitivity, visual field and navigational ability under dim lighting conditions were reported, with preservation of the clinically meaningful effect for at least 4 years.1 Not only has this new treatment changed the lives of individuals previously destined to live a life of blindness, but it has also fuelled interest in …

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Footnotes

  • Contributors JPM planned, drafted, revised and submitted the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; internally peer reviewed.

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