Inherited Retinal What Type Do You Have?

There are over 200 known inherited retinal diseases (IRDs), each with its distinct characteristics and genetic mutations. Some of the most common types of IRDs include:

Retinitis pigmentosa (RP): RP is a group of genetic disorders that affect the retina, the light-sensitive tissue at the back of the eye. RP causes a progressive loss of peripheral (side) vision, which can eventually lead to blindness.

Usher syndrome: Usher syndrome is a rare genetic condition that affects both hearing and vision. People with Usher syndrome have varying degrees of hearing loss and retinitis pigmentosa.

Stargardt disease: Stargardt disease is a juvenile form of macular degeneration, which affects the central vision. It is characterized by the accumulation of lipofuscin, a yellowish pigment, in the retinal cells.

Leber congenital amaurosis (LCA): LCA is a group of severe inherited retinal disorders that cause blindness or severe visual impairment from birth.

Cone-rod dystrophy: Cone-rod dystrophy is a group of inherited retinal disorders that affect both cone cells (responsible for color vision and central vision) and rod cells (responsible for low-light and peripheral vision).

Macular dystrophy: Macular dystrophy is a group of inherited retinal disorders that affect the macula, the central part of the retina responsible for sharp central vision.

Choroideremia: Choroideremia is a rare X-linked inherited retinal disorder that primarily affects males. It causes progressive degeneration of the choroid, the layer of blood vessels beneath the retina, leading to vision loss.

Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): RVCL is a rare inherited retinal disorder characterized by retinal vascular abnormalities and white matter changes in the brain.

Mitochondrial disorders:Mitochondrial disorders can affect the retina and cause various IRDs. Mitochondria are the energy-producing units of cells, and mutations in mitochondrial genes can lead to retinal degeneration.

The type of inherited retinal disease a person has depends on the specific genetic mutations they inherit. Genetic testing can identify the specific genetic mutations responsible for the IRD and help determine the prognosis and treatment options.