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Gyrate Atrophy
This very rare condition is associated with a deficiency in the enzyme ornithineaminotransferase.
Refsum syndrome
In Refsum syndrome, visual impairment is accompanied by hearing loss, neurological problems, heart problems, dry or flaky skin, loss of sense of smell, and oddly shaped red blood cells.
NARP syndrome
People with NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) syndrome have neurological (muscle weakness, epilepsy and memory problems) and balance problems in addition to retinitis pigmentosa.
Bassen-Kornweig syndrome
In this condition, retinitis pigmentosa is accompanied by progressive neurological problems, abnormal red blood cells (acanthocytosis) and defective bowel absorption of fat, leading to very low blood levels of cholesterol and absent beta lipoprotein (Abetalipoproteinaemia).
Bardet-Biedl syndrome (BBS)
Bardet-Biedl syndrome (BBS) is an inherited, rare condition which impacts many parts of the body including the retina.
Types of genetic testing
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
A genetic diagnosis for RP can give rise to unexpected surprises
James Birtley is a Retina UK supporter and volunteer who is living with retinitis pigmentosa. He is also a scientist with a particular interest in the structure of proteins, the complex molecules that form the building blocks of our bodies.
Funding paves the way for achromatopsia
A research project funded by Retina UK helped pave the way to a new gene therapy that has recently produced encouraging results in two young people with achromatopsia, a condition that causes complete colour-blindness and poor overall vision from birth.