5 rare vision loss diseases you may not have heard of

1. Retinoblastoma

Retinoblastoma is a type of eye cancer that begins in the retina, the light-sensitive layer of the eye. This type of cancer usually develops in early childhood, typically affecting children under the age of five.

If you’re interested the work we’re funding in retinoblastoma, sign up to our webinar on Thursday 6 March. You’ll be able to hear one of our researchers, Dr Amy Gerrish discussing her work in retinoblastoma diagnosis with one of our ambassadors, Katie Elliott, who was diagnosed with retinoblastoma at 4 years old.

Currently, diagnosing retinoblastoma can involve removing the eye. That’s why Dr Gerrish at Birmingham Women’s and Children’s NHS Foundation Trust is working on a test that will hopefully allow researchers to identify the cancer without removing a patient’s eye. Such a test would have a significant impact on treatment and follow-up care.

2. Usher syndrome 

Usher syndrome is a genetic progressive vision and hearing loss condition that affects children. It can also affect balance.

Fight for Sight has awarded Resilience Funding to Usher Kids UK, a charity who support families affected by this condition. If you’re interested in their work, check out our most recent webinar with Chloe Joyner, Founder of Usher Kids UK. Usher Kids helps those caring for children with Usher Syndrome, as well as allowing them to connect with others who understand what they’re going through.

The charity also runs a popular summer camp with volunteers from the professional community (from clinicians to teachers). It offers a space where young people can connect with others with the condition, as well as enabling professionals to learn from young people with lived experience. 

3. Stargardt disease

Stargardt disease is a genetic condition that causes progressive central sight loss. It's caused by gradually increasing damage to the macula, which is a small area in the centre of the retina, and it affects detailed and colour vision.

There is currently no way to stop vision loss associated with Stargardt disease. Fight for Sight is currently funding early research into gene therapy for Stargardt disease at UCL Institute of Ophthalmology. Professor Omar Mahroo and Dr Matteo Rizzi have developed a special mechanism to deliver gene therapy to the cells that need it in Stargardt disease. For the past two years they have been studying the potential effectiveness of this method, funded by their Fight for Sight Project Grant.

Find out more about their day-to-day work in the lab below! 

4. Retinitis pigmentosa (RP)

Retinitis pigmentosa, a form of inherited retinal dystrophy, is a group of closely related eye conditions that affect the retina, the specialised light-sensitive tissue at the back of the eye.

Collectively RP isn’t a rare disease, but each individual cause of RP (among which there are more than 250 genes implicated) is. This means that treatment needs to be personalised for each different inherited mutation, because a treatment that works for one cause might not work for another.

Want to know what we’re funding in RP? Listen to our CEO, Keith Valentine, interview Professor Majlinda Lako below. Professor Lako was awarded a Fight for Sight Project Grant in 2013 for her work developing lab-based models of RP. Such models are crucial because they allow us to study the different causes of RP, as well as helping us to develop potential treatments.

Professor Lako’s team developed retinal cells in the lab using skin cells from RP patients, all with the same inherited mutation. They found that, by correcting these defects, these retinal cells became functional. This shows that gene therapy may be possible for this group of patients with RP.

5. Acanthamoeba keratitis (AK)

Acanthamoeba keratitis is a serious eye infection of the cornea, the clear surface or window at the front of the eye. AK is caused by microbes found in water and soil. While these microbes do not usually cause any harm to humans, they can act as parasites and cause severe eye disease if they infect the cornea. While anyone can develop AK, in the developed world contact lens wearers are at particularly high risk.

Fight for Sight is a contributing member of The Global Alliance Against AK, a collaboration of diverse stakeholders including patients, clinicians and regulators. Last October, the Global Alliance released a white paper outlining recommendations to raise awareness of prevention, treatment and patient care. The paper included recommendations on raising awareness amongst clinicians, as well as improving public awareness of how to use contact lenses safely.