Some of the key topics discussed in this podcast include:

  • The importance of identifying early signs and the diversity, complexity and process of diagnosis of inherited retinal diseases (IRDs)
  • Characteristics, symptoms and clinical signs which may relate to different IRDs to identify early signs and how varying types are differentiated
  • The importance of differentiating between age-related macular degeneration (AMD) and an IRD
  • How disease management is changing with now one treatment available 
  • Syndromic IRDs such as Refsum disease which can be treated through diet
  • The different levels and associated costs of genetic testing, its increasing importance with more gene specific treatments coming through the pipeline and its assistance in family planning 
  • Specialised IRD clinics in each State for ocular diseases provide comprehensive care with access eye health professionals, geneticists and genetic counsellers, and what to expect when you go for your genetic test
  • Emerging technologies such as gene therapy, stem cell therapy, vision prothesis, and how they vary in their focus on treating different stages of disease
  • How the one gene therapy currently available, Luxturna, is delivered and the positive results it has delivered from the treatment

Lien also speaks to several people living with an IRD who kindly share their experiences, from initial consultation and diagnosis, the symptoms they have experienced over time and how this has impacted their career choices and life journey.