Types of inherited sight loss

Inherited progressive sight loss is caused by a range of rare genetic conditions. We specialise in those which affect the retina.

There are many inherited retinal dystrophies (IRDs). Some IRDs primarily affect the outer, peripheral areas of the retina, while others mainly affect the macula in the central retina. In some cases, IRDs do eventually progress to complete loss of vision. All IRDs are directly caused by a mutation (fault) in a gene, which results in degeneration of retinal cells.

IRDs can be caused by mutations in any one of a large number of genes. Two individuals with the same clinical diagnosis (retinitis pigmentosa for example) might have different underlying genetic causes for their condition. You can find out more about this in our Unlock Genetics resource.

Retina UK supports everyone with an inherited retinal dystrophy, but we do not have the expertise to support those with other types of retinal disease such as age-related macular degeneration (AMD), diabetic retinopathy, retinopathy of prematurity, or detached retina. There are links to further support for these conditions at the end of this page.

Types of inherited sight loss

Classic retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited eye condition that affects the photoreceptor cells responsible for capturing images from the visual field. These cells line the back of the eye in the region known as the retina.


Choroideremia is a genetic condition that causes progressive vision loss, mostly in males, and is due to degeneration of the specialised light-sensing photoreceptor cells that line the back of the eye.

Stargardt disease

Stargardt disease is the most common form of inherited juvenile macular degeneration. Progressive vision loss is caused by the death of photoreceptor cells in the central portion of the retina called the macula.


Achromatopsia is a rare hereditary vision disorder resulting in an absence of colour vision along with additional visual problems.

Best disease

Best disease symptoms usually appear during childhood or early adolescence, but some people may only start experiencing problems later in life. The severity of symptoms can also vary between individuals.

Juvenile macular degeneration

Juvenile macular degeneration is an umbrella term for a series of inherited eye disorders that affect children and young adults.

Gyrate Atrophy

This very rare condition is associated with a deficiency in the enzyme ornithineaminotransferase.

Cone-rod dystrophy

Cone-rod dystrophy is less common than rod-cone dystrophy with an incidence of approximately 1 in 80,000.

Rod-cone dystrophy

Rod-cone dystrophy is an umbrella term used to describe retinal conditions in which the rod-shaped photoreceptors, found mainly in the peripheral areas of the retina, degenerate ahead of the cone-shaped photoreceptors in the centre.

Bardet-Biedl syndrome (BBS)

In this condition RP is accompanied by abnormalities of the fingers and/or toes, obesity, kidney disease and sometimes developmental delay and learning difficulties.

Alstrom syndrome

In Alström syndrome, inherited progressive eye disease is accompanied by obesity, hearing loss, diabetes, and heart problems.

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.

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.

Usher syndrome

Usher syndrome is an inherited condition that affects both hearing and vision. The symptoms of Usher syndrome consist of childhood-onset hearing loss, progressive vision loss caused by degeneration of the retina (retinitis pigmentosa), and sometimes balance problems.

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).

Inherited retinal dystrophies also include a number of other very rare conditions including Doyne honeycomb dystrophy, congenital stationary night blindness, Sorsby fundus dystrophy, Bullseye dystrophy, pattern dystrophy and more. Our volunteers and staff can provide more information.

Linked conditions

Some people living with inherited sight loss may experience these additional conditions:

The following conditions are not covered by Retina UK. They do involve the retina but are not inherited conditions: