Ocular Genetics

RB1, also known as the retinoblastoma gene, is the primary gene associated with the development of retinoblastoma.

Stargardt disease is the most common inherited form of macular degeneration, characterized by progressive loss of central vision due to degeneration of the macula.

Down syndrome is caused by the presence of an extra copy of chromosome 21 and is associated with various physical and intellectual disabilities, including an increased risk of eye problems.

Mutations in the RPE65 gene are the most common cause of Leber congenital amaurosis, an inherited retinal disorder characterized by severe visual impairment or blindness from birth.

Optic atrophy is a genetic condition characterized by progressive loss of vision due to degeneration of the optic nerve, often leading to blindness.

Mutations in the RHO gene are the most common cause of retinitis pigmentosa, an inherited retinal disorder characterized by progressive loss of peripheral vision and night blindness.

Klinefelter syndrome is caused by the presence of an extra copy of the X chromosome and is associated with various physical and intellectual disabilities, including an increased risk of eye problems.

Mutations in the MYO7A gene are the most common cause of Usher syndrome type 1, an inherited condition characterized by hearing loss, vision loss, and balance problems.

Retinitis pigmentosa is a genetic condition characterized by progressive loss of vision due to degeneration of the retina, often leading to blindness.

Mutations in the ABCA4 gene are the most common cause of cone-rod dystrophy, an inherited retinal disorder characterized by progressive loss of color vision and night blindness.

XYY syndrome is caused by the presence of an extra copy of the Y chromosome and is associated with various physical and intellectual disabilities, including an increased risk of eye problems.

Mutations in the BBS1 gene are the most common cause of Bardet-Biedl syndrome, an inherited condition characterized by obesity, intellectual disability, and various eye problems.

Keratoconus is a genetic condition characterized by progressive thinning and bulging of the cornea, leading to distorted vision and sensitivity to light.

Mutations in the PAX6 gene are the most common cause of aniridia, a genetic condition characterized by the absence or incomplete development of the iris.

Cataracts are a genetic condition characterized by clouding of the lens, leading to blurred vision and eventually blindness if left untreated.