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Gene therapy is a general treatment for genetic disorders; it uses viral vectors to carry typical genes into cells (e.g. cone cells) that are not able to express functional genes (e.g. photopsins). It may be possible to restore color vision by adding missing opsin genes – or a functional copy of the entire gene complex – into
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.
In 1632, Vopiscus Fortunatus Plempius examined a myopic eye and confirmed that myopia was due to a lengthening of its axial diameter. [153] The idea that myopia was caused by the eye strain involved in reading or doing other work close to the eyes was a consistent theme for several centuries. [98]
Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull. It was named after the ophthalmologist William Hunter Knobloch (1926–2005), [2] who first described the syndrome in 1971. [3] A usual occurrence is a degeneration of the vitreous humour and the retina, two components of the eye.
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]
Visual or vision impairment (VI or VIP) is the partial or total inability of visual perception.In the absence of treatment such as corrective eyewear, assistive devices, and medical treatment, visual impairment may cause the individual difficulties with normal daily tasks, including reading and walking. [6]
It affects over 100 breeds, can be caused by multiple different genetic variants, and there’s no treatment. At first, it might affect vision in dimmer lighting, before eventually leading to full ...
People that are pregnant from families with a history of congenital blindness will be closely monitored and need to carry out genetic testing in order to identify whether there is a mutation or not. Red reflex testing is done in neonates, infants, and children to assess eye and vision function. [26]