Research into inherited retinal disease and the benefits of genetic counselling 

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 😊