Access: 1. In general, a means of approaching something. 2. In health care, the opportunity or right to receive health care. 3. In dialysis, the point on the body where a needle or catheter is inserted to gain entry to the bloodstream.
Aging: The process of becoming older, a process that is genetically determined and environmentally modulated.
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene , one copy from each parent. The gene is on an autosome , a nonsex chromosome . The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
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Balance: A biological system that enables us to know where our bodies are in the environment and to maintain a desired position. Normal balance depends on information from the inner ear, other senses (such as sight and touch) and muscle movement.
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Blind: 1. Unable to see. Without part or all of the sense of sight.
2. In a clinical trial, not to know the treatment given or received. The participant is not told whether they are in the experimental or control arm of the study. Also called masked.
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Blindness: Loss of useful sight. Blindness can be temporary or permanent. Damage to any portion of the eye, the optic nerve, or the area of the brain responsible for vision can lead to blindness. There are numerous (actually, innumerable) causes of blindness. The current politically correct terms for blindness include visually handicapped and visually challenged.
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Clinical: 1. Having to do with the examination and treatment of patients. 2. Applicable to patients. A laboratory test may be of clinical value (of use to patients).
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Cochlear: Pertaining to the cochlea, the organ of hearing.
Condition: The term "condition" has a number of biomedical meanings including the following: - An unhealthy state, such as in "this is a progressive condition."
- A state of fitness, such as "getting into condition."
- Something that is essential to the occurrence of something else; essentially a "precondition."
- As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.
Congenital: Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of "congenital" in medicine. There are, for example, congenital abnormalities. (For more examples, see below.)
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Congenital deafness : Loss of hearing present at birth.
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Congenital deafness and retinitis pigmentosa: (Also called Usher syndrome.) A genetic disorder characterized by hearing impairment and an eye disorder called retinitis pigmentosa in which vision worsens over time. Some people with Usher syndrome also have balance problems.
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Deafness: Deafness is defined by partial or complete hearing loss. Levels of hearing impairment vary from a mild but important loss of sensitivity to a total loss of hearing. Older adults suffer most often from hearing loss. Age-related hearing loss affects 30 to 35 percent of the population between the ages of 65 and 75 years, and 40 percent of the population over the age of 75. The most common cause of hearing loss in children is otitis media, a disorder that affects predominantly infants and young children. A substantial number of hearing impairments are caused by environmental factors such as noise, drugs, and toxins. Many sensorineural hearing losses result from a genetic predisposition.
Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
Electroretinography : Abbreviated ERG. A test in which the electrical potentials generated by the retina of the eye are measured when the retina is stimulated by light.
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ERG: Electroretinography.
Eye: The organ of sight. The eye has a number of components. These components include but are not limited to the cornea, iris, pupil, lens, retina, macula, optic nerve, choroid and vitreous.
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Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child.
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Lips: Aside from the lips of the mouth, there are two pairs of lips at the entrance to the vagina. They are the labia majora (the larger outside pair) and the labia minora (the smaller inside pair). Together they form part of the vulva (the female external genitalia).
Low vision: A visual impairment, not corrected by standard glasses, contact lenses, medicine, or surgery, that interferes with the ability to perform everyday activities. Most people develop low vision because of eye diseases such as cataracts , glaucoma , diabetic retinopathy or age-related macular degeneration (AME). Low vision primarily affects people over age 65. High risk populations include Hispanics and African Americans, who are likely to develop low vision at an earlier age. While lost vision usually cannot be restored, many people can learn to make the most of the vision that remains.
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Night blindness: Impaired vision in dim light and in the dark, due to impaired function of specific vision cells (namely, the rods ) in the retina .
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Offspring: The offspring are strictly speaking the progeny, or young, born to a person.
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Pregnancy: The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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Primary: First or foremost in time or development. The primary teeth (the baby teeth) are those that come first. Primary may also refer to symptoms or a disease to which others are secondary.
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Puberty: A complex biologic and psychologic process involving sexual development, accelerated growth, and adrenal maturation heralded by the secretion of gonadotropin releasing hormone (GnRH) from a part of the brain called the hypothalamus . This event is the first known step in the reproductive cascade. It initiates the pulsatile release of gonadotropins , gonadal secretion of sex steroids, pubertal development, and gametogenesis (the production of sperm and ova ).
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Random: The process by which an outcome is determined solely by chance, for example, by a coin flip.
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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Retina: The retina is the nerve layer that lines the back of the eye, senses light, and creates impulses that travel through the optic nerve to the brain. There is a small area, called the macula, in the retina that contains special light-sensitive cells. The macula allows us to see fine details clearly.
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Retinitis pigmentosa: Any one of a large group of inherited disorders in which abnormalities of the photoreceptors (the rods and cones) in the retina lead to progressive visual loss. People with retinitis pigmentosa (RP) first experience defective dark adaptation ("night blindness"), then constriction of the visual field ("tunnel vision") and eventually loss of central vision.
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Retinitis pigmentosa and congenital deafness: (Also called Usher syndrome.) A genetic disorder characterized by hearing impairment and an eye disorder called retinitis pigmentosa in which vision worsens over time. Some people with Usher syndrome also have balance problems.
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Sign: Any objective evidence of disease. Gross blood in the stool is a sign of disease. It can be recognized by the patient, doctor, nurse, or others. In contrast, a symptom is, by its nature, subjective. Abdominal pain is a symptom. It is something only the patient can know.
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Sign language: A language that employs signs made with the hands and other movements, including facial expressions and postures of the body, used primarily by people who are deaf. There are many different sign languages as, for example, British and American sign languages. British sign language (BSL) is not easily intelligible to users of American sign language (ASL). Unlike ASL, BSL uses a two-handed alphabet. In developing countries, deaf people may use the sign language of educators and missionaries from elsewhere in the world. For example, some deaf individuals in Madagascar use Norwegian sign language. By contrast, deaf children in Nicaragua have created their own sign language. Study of the emerging Nicaruagan sign language (NSL) has revealed that children naturally possess learning abilities capable of giving language its fundamental structure. See also: American sign language .
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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Usher syndrome: A genetic disorder characterized by hearing impairment and an eye disorder called retinitis pigmentosa in which vision worsens over time. Some people with Usher syndrome also have balance problems.
See the entire definition of Usher syndrome
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From the Doctors at MedicineNet.com  |
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- Electroretinography - Read about electroretinography (ERG), an eye test where electrodes placed on the cornea measure electrical responses to light to try to detect abnormal retinal function. Source:MedicineNet
- Deafness, Hearing Loss - Hearing loss (deafness) may be present at birth or it may manifest later in life. Deafness may be genetic or due to damage from noise. Treatment of deafness depends upon its cause. Source:MedicineNet
- Read 13 more Usher Syndrome related articles ...
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