Professor Michel Michaelides

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A huge thank you to our medical adviser Professor Michel Michaelides from Moorfields Eye Hospital and Institute of Ophthalmology, UCL who recently joined our Zoom session to give a Stargardt's research update and hold a question and answer session.

Here is the video of the session. Below are the additional questions that were not covered in the session, which Professor Michaelides has kindly followed up and answered.

My sister and I have SD and earlier this year we found our our third generation cousin has also got SD. I believe this is very rare and there is one other family with these connections in SD in Canada. What does this mean? Is our SD somehow different?

It is unusual but not rare; partly given the fact that 1 in 20 to 1 in 50 people are carriers for a fault in the gene ABCA4

Are there any effective treatments so far (gene or stem cells) or other interventions? Also, what we know so far about increased Rab11 transport into CNS axons in vitro in order to increase regenerative abilities?

There are no proven treatments to date. And I am unaware of this being explored directly in inherited retinal disease to date.

Are there any homeopathic approaches that would help?

There is no evidence to date but patients do describe benefit from various complementary therapies including acupuncture

Why do some people get adult onset when others get in in childhood?

This is believed to be related to the severity of gene variants in ABCA4, and also other genetic factors – so called modifying factors.

Assuming gene or stem cell therapy eventually succeeds in being able to restore all the necessary retinal cells, is there any doubt whether the brain would still be able to interpret renewed signals from the restored light-receptor cells, neurologically?

Given the vast majority of patients will have had significant periods of normal vision before marked visual loss (so have developed normal brain processing), we anticipate that the signals will be appropriately interpreted by the brain

After the genetic test my daughter 12 years old was diagnosed with a mutation that has only been reported in one other patient. Could that mean that her treatment could be delayed?

The number of people with various mutations is constantly changing. Your daughter's treatment would not necessarily be delayed as many approaches are not mutation-specific, but gene-specific.