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Human Eye. Cyanopsia is a rare visual phenomenon characterized by a blue tint to vision. Most commonly associated with cataract surgery and certain medications, such as sildenafil, cyanopsia is typically a temporary side effect rather than a standalone disease.
Mutations in a single copy of SNAI2 have also been found to cause patches of hair depigmentation without any other symptoms. [25] Type 2E is caused by an autosomal dominant mutation in the gene SOX10. [4] Rarely, a mutation in a gene other than those currently known may be responsible for a Waardenburg syndrome with features of type 2.
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.
Animal testing for gene therapy began in 2007 with a 2009 breakthrough in squirrel monkeys suggesting an imminent gene therapy in humans. While the research into gene therapy for red-green colorblindness has lagged since then, successful human trials are ongoing for achromatopsia. Congenital color vision deficiency affects upwards of 200 ...
Oculocutaneous albinism is a form of albinism involving the eyes , the skin (-cutaneous), and the hair. [1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. [1] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [2]
BCM results from mutations in a single red or red–green hybrid opsin gene, mutations in both the red and the green opsin genes or deletions within the adjacent LCR (locus control region) on the X chromosome. [3] Green cone monochromacy (GCM), also known as M-cone monochromacy, is a condition where the blue and red cones are absent in the ...
In contrast, mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival. [17] Incidence of posterior uveal melanoma is highest among people with light skin and blue eyes. Other risk factors, such as blue light exposure and arc welding, have been put forward, but are still debated in the field.
Hans Eiberg (born 8 April 1945) is a Danish geneticist, known for his discovery of the genetic mutation causing blue eyes.. Hans Eiberg graduated as a M.Sc. in 1970. He has worked with genetics at the Institute for Medical Biochemistry and Genetics of Copenhagen University since 1971, and became an associate professor at the institute in 1975.