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As part of our aim to nurture young scientists, we are very pleased to introduce one of our new PhD students as part of a co-funding agreement with the Macular Society.

• Case study - research
• Written

Dr Nikolas Pontikos is a Senior Research Fellow at UCL Institute of Ophthalmology, and has been working on inherited retinal conditions for several years.

• Case study - research
• Written

We are currently funding a range of exciting projects and programmes, all of which aim to enhance our understanding of inherited sight loss, and inform the development of treatments for the estimated two million people affected worldwide.

We were joined for this popular ‘Ask the expert’ session by Samantha de Silva, a consultant ophthalmic surgeon at Oxford Universities Hospital Trust.

• Webinar
• Audio
• Video

Best disease, also known as Best vitelliform macular dystrophy (BVMD), is is an inherited eye condition associated with progressive degeneration of the macula and is a form of juvenile macular dystrophy.

Choroideremia is a genetic condition that causes progressive vision loss, mostly in males.

Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.

Alstrom syndrome is an inherited condition which affects many body systems.

Achromatopsia is a rare hereditary vision disorder affecting approximately 1 in 30,000 newborn babies.

Leber Congenital Amaurosis (LCA) is a rare genetic eye disease that appears at birth or in the first few months of life.