Research into inherited retinal disease and the benefits of genetic counselling

Research optometrist Shelley Black and genetic counsellor Claire Kirk joined us from the Northern Ireland Clinical Research Network (NICRN) for this My Macular and Me webinar. Shelley shared information on the latest macular and inherited retinal disease research, while Claire explained the benefits of genetic counselling.

[@ajaynarayanaswamy3073]

Can someone have stargardts disease without any mutations in the ABCA4 gene ? Retina which has a beaten bronze appearance

[@clairekirk5089]

Hi there, thank you for your question. This might be a bit wordy...firstly, virtually all retinal degenerations are inherited/genetic. A very small number may have been caused by previous drug toxicity or viral infection. Stargardts disease is caused by mutations in the ABCA4 gene. However, clinically ABCA4-related Stargardts is difficult to distinguish from PRPH2-related Stargardts (pseudo-Stargardts) and this is one of the reasons that having a genetic diagnosis is important (in my opinion!). My electrophysiology colleague told me that there is a move away from the term Stargardts disease towards using the term ABCA4-related macular degeneration. This makes sense as there are so many genes that cause retinal degenerations (>300) with lots of clinical overlap between the conditions. I hope this clarifies things slightly! I'm sorry, I can't comment on the retinal appearance but I will pass your query on to Shelley 😊