Search results
Results from the WOW.Com Content Network
The polymorphisms may be in an OCA2 regulatory sequence, where they may influence the expression of the gene product, which in turn affects pigmentation. [13] A specific mutation within the HERC2 gene, a gene that regulates OCA2 expression, is partly responsible for blue eyes. [9] Other genes implicated in eye color variation are SLC24A4 [22 ...
Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy.Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition.
Familial exudative vitreoretinopathy (FEVR, pronounced as fever) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye. This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by incomplete vascularization of the peripheral retina.
Rod monochromacy (Achromatopsia), when all three of the cones are non-functional and therefore photopic vision (and therefore color vision) is disabled. Monochromacy of photopic vision is a symptom of both Cone Monochromacy and Rod Monochromacy, so these two conditions are typically referred to collectively as monochromacy. [1] [2]
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects adult males, and onset is more likely in younger adults.
People with lighter eyes also consume significantly more alcohol, as darker eyed people require less alcohol to become intoxicated. The reason boils down to genes.
Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [1]
Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.