Zonular Cataract And Nystagmus
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Zonular Cataract And Nystagmus
Zonular cataract and nystagmus, also referred as nystagmus with congenital zonular cataract, is a rare congenital disease associated with Nystagmus and zonular cataract of the eye. Genetics It has been suggested that the disease follows an X-linked pattern of inheritance Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ ... though studies done on this particular disease are few. Diagnosis Treatment References External links Congenital disorders of eyes Genetic disorders with OMIM but no gene {{Genetic-disorder-stub ...
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Congenital
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ...
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Pathologic Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the involuntary movement of the eye, it has been called "dancing eyes". In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key forms of ...
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Cataract
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of li ...
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Human Eye
The human eye is a sensory organ, part of the sensory nervous system, that reacts to visible light and allows humans to use visual information for various purposes including seeing things, keeping balance, and maintaining circadian rhythm. The eye can be considered as a living optical device. It is approximately spherical in shape, with its outer layers, such as the outermost, white part of the eye (the sclera) and one of its inner layers (the pigmented choroid) keeping the eye essentially light tight except on the eye's optic axis. In order, along the optic axis, the optical components consist of a first lens (the cornea—the clear part of the eye) that accomplishes most of the focussing of light from the outside world; then an aperture (the pupil) in a diaphragm (the iris—the coloured part of the eye) that controls the amount of light entering the interior of the eye; then another lens (the crystalline lens) that accomplishes the remaining focussing of light into ...
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X-linked
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected fath ...
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Inheritance
Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequest, bequeathing private property and/or debts can be performed by a testator via will (law), will, as attested by a notary or by other lawful means. Terminology In law, an ''heir'' is a person who is entitled to receive a share of the decedent, deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (decedent) died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid ( ...
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Congenital Disorders Of Eyes
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visib ...
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