Cameron family set up fund for research into autosomal dominant optic atrophy

30 August 19

written by:

Alice Mitchell

(more articles)

A Beckenham family has set up a family fund with Fight for Sight to raise money for children Beth and Edward, who have the rare congenital eye condition, autosomal dominant optic atrophy (ADOA).

The family will raise money for research into new treatments for the condition through a series of fundraising events taking place throughout the year.

Their story

Kate and Daniel are the proud parents of their four children, Beth, Edward and identical twins Hannah and Amy.

Without knowing, Daniel had been living with ADOA for many years before being diagnosed, despite having undergone several tests twenty years previously.

Many years later, after several eye tests and hospital referrals, children Beth and Edward – then aged five and seven – were diagnosed with ADOA and finally, so was Daniel. The children had therefore inherited their condition from Daniel.

What is autosomal dominant optic atrophy (ADOA)?

Autosomal dominant optic atrophy is a rare inherited syndrome that in some cases can lead to severe sight loss. The condition leads to degeneration of the optic nerve (optic atrophy). The optic nerve sends signals about what the eyes are seeing to the brain, and when it becomes damaged, this results in vision loss.

Symptoms usually start in childhood or adolescence and include decreased visual acuity with colour vision defects and abnormalities in the peripheral and central field of vision. The condition is highly variable, causing different levels of visual impairment, ranging from mild vision loss through to total blindness. Alongside sight loss, about 20% of people with the condition develop other symptoms such as hearing loss, pain and muscle weakness. This is called autosomal dominant optic atrophy plus syndrome (ADOA Plus). Currently there are no approved treatments or cures for ADOA.

Kate said: “We want to help in any way we can to fund research into ADOA. With members of my family experiencing low vision, it feels very important to raise funds for Fight for Sight and to raise awareness of their brilliant and necessary work. Thank you for supporting a cause so close to our hearts and for helping us to build a future all those with ADOA can see.”

Hope for the future

Beth continues to have 20% vision, with no further deterioration expected, while Daniel and Edward have 66% vision – their short-sightedness corrected with glasses. 

Edward also has mild hearing loss, which is thought to be connected to the condition.

The twins have not yet been tested for the hereditary gene because fortunately they have 20/20 vision. They are likely to have tests, either when older or if their vision appears to be affected, due to the 50% chance that they may have inherited the abnormal gene.

The Cameron Family will now be raising money to fund research into new treatments into the condition.

Kate said: “The children have been very supportive of each other and are keen to help with fundraising for eye research. They all talk openly about Beth’s visual impairment. She has come to terms with her condition but doesn’t let it stop her doing anything.”

You can read more on the Cameron Family Fund and how you can support it here.

You can visit the family's JustGiving page here.