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Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.
Retinitis pigmentosa is the leading cause of inherited blindness, [51] with approximately 1/4,000 individuals experiencing the non-syndromic form of their disease within their lifetime. [52] It is estimated that 1.5 million people worldwide are currently affected.
Leber's congenital amaurosis (LCA) is a collection of inherited, degenerative eye disorders that can reduce the strength of visual clarity or sharpness in infants and can cause childhood blindness. [ 14 ] [ 15 ] These eye disorders are mostly autosomal recessive diseases, and diagnoses of LCA are linked to multiple gene variants, including the ...
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 young adult males.
Cook was born with an inherited retinal disorder that causes blindness, a rare type of eye disorder historically called Leber congenital amaurosis or LCA. ... with inherited blindness in the Phase ...
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.
Researchers have found a link between semaglutide use and NAION, a rare condition that is the second-leading cause of optic nerve blindness. (Getty Images) (Jacob Wackerhausen via Getty Images)
Norrie disease is a rare X-linked recessive genetic disorder that primarily affects the eyes and almost always leads to blindness.It is caused by mutations in the Norrin cystine knot growth factor gene, also referred to as Norrie Disease Pseudoglioma (NDP) gene.