Research Update

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

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

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

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

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

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.