Rare Eye Conditions

Here is a list of Inherited Retinal Diseases (IRDs) as well as other inherited conditions causing vision loss,

Retinitis Pigmentosa

Retinitis pigmentosa (RP) refers to a group of inherited diseases that affect the photoreceptor (light sensing) cells responsible for capturing images from the visual field.

Choroideremia

Choroideremia (alternative spelling: Choroideraemia) is a genetic condition that causes progressive vision loss mostly in men and is due to a degeneration of the specialised light-sensing photoreceptor cells that line the back of the eye.

Leber Congenital Amaurosis

Leber Congenital Amaurosis (LCA) is a rare genetic eye disease that appears at birth or in the first few months of life. The extent of vision loss varies from patient to patient, but can be quite severe (with little to no light perception).

Usher Syndrome

Usher syndrome refers to a group of genetic conditions that have both hearing loss and progressive deterioration in vision due to retinitis pigmentosa (RP).

Stargardt Disease

Stargardt disease is the most common form of inherited juvenile macular degeneration and affects the portion of the retina known as the macula.

Juvenile X-linked Retinoschisis

Juvenile X-linked retinoschisis is a rare genetic disease of the retina and primarily affects boys and young men.

Leber Hereditary Optic Neuropathy

Leber hereditary optic neuropathy (LHON) is a genetic disease that leads to sudden vision loss during young adult life. Men are more likely to be affected than women.

Best Disease

Best disease, also known as vitelliform macular dystrophy, is an inherited form of retinal degeneration affecting the portion of the retina known as the macula.

Achromatopsia

Achromatopsia is a rare hereditary vision disorder affecting the cone photoreceptor cells, resulting in an absence of colour vision along with additional visual problems.

Cone Rod Dystrophies

Cone-rod dystrophies refer to a group of inherited diseases that affect the photoreceptor (light sensing) cells that are responsible for capturing images from the visual field.

Gyrate Atrophy

Gyrate atrophy is an autosomal recessive dystrophy caused by mutations in the gene for ornithine aminotransferase (OAT) ,located on chromosome 10. Originally thought to be a subtype of choroideremia, the disorder is the result of tenfold elevations of plasma ornithine, which is toxic to the RPE and choroid.

Juvenile Macular Degeneration

Juvenile macular degeneration is a series of inherited eye disorders that affects children and young adults. Juvenile macular degeneration is different from age-related macular degeneration, which occurs as part of the body’s natural aging process.

Kearns-Sayre syndrome

Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.

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