disease(redirected from Refsums disease)
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See also: syndrome. Synonym(s): illness, morbus, sickness
See also: syndrome.
A state of disharmonious vibration of the elements and forces affecting humans on one or more planes of existence.
Cause of disease (alternative medicine)
• Accumulation of toxic material (e.g., through poor diet).
• Incorrect or unbalanced diet.
• Improper posture.
• Destructive emotions.
• The use of suppressive drugs and vaccines.
• Use of alcohol, coffee and tobacco.
• Environmental hazards in the form of air and water pollution.
• Occupational hazards (e.g., chemicals, poor air quality, noise pollution, asbestos and others).
• Inherited factors and predispositions.
A regional term for drug of choice.
(1) A condition in which bodily function is interfered with or damaged, resulting in characteristic signs and symptoms.
(2) The loss of a state of wellness due to either a failure in physiologic adaptation mechanisms or an overwhelming of the natural defences by a noxious agent or pathogen.
Synonym(s): illness, morbus, sickness.
See also: syndrome
diseasean abnormality of an animal or plant caused by a pathogenic organism or the deficiency of a vital nutrient that affects performance of the vital functions and usually gives diagnostic symptoms.
autoimmune disease A disease produced when the immune response of an individual is directed against its own cells or tissues. It is not yet known exactly what causes the body to react to one's own antigens as if they were foreign. Examples: diabetes mellitus type 1; Graves' disease; multiple sclerosis; myasthenia gravis; rheumatoid arthritis; Reiter's disease; Sjögren's syndrome.
Batten-Mayou disease Juvenile form of amaurotic family idiocy. It is characterized by progressive degeneration of the retina, which eventually leads to blindness. Syn. Spielmeyer-Stock disease.
Behçet's disease See Behçet's syndrome.
Benson's disease See asteroid hyalosis.
Berlin's disease A traumatic phenomenon in which the posterior pole of the retina develops oedema (and haemorrhages). Syn. commotio retinae.
Best's disease An autosomal dominant inherited degeneration in which there is an accumulation of lipofuscin within the retinal pigment epithelium, which interferes with its function. It is caused by a mutation in bestrophin gene (BEST1). The disease is characterized by the appearance on the retina in the first and second decades of life of a bright orange deposit, resembling the yolk of an egg (vitelliform), with practically no effect on vision. It eventually absorbs, leaving scarring, pigmentary changes and impairment of central vision in most cases, although in some cases the retinal lesion may be eccentric, with very little effect on vision. The electrooculogram is abnormal throughout the development of the disease from pre-vitelliform, vitelliform and the end-stage when there is scarring or atrophy. Syn. Best's macular dystrophy; juvenile vitelliform macular dystrophy; vitelliform macular dystrophy. Mutation in the VMD2 gene can cause adult vitelliform macular dystrophy, a condition characterized by smaller macular lesions and very little impairment of vision. See pattern dystrophy.
Bowen's disease A disease characterized by a slow-growing tumour of the epidermis of the skin which may involve the corneal or conjunctival epithelium.
Coats' disease Chronic, progressive retinal vascular anomalies, usually unilateral, occurring predominantly in young males. It is characterized by retinal exudates, irregular dilatation (telangiectasia) and tortuosity of retinal vessels and appears as a whitish fundus reflex (leukocoria). Subretinal haemorrhages are frequent and eventually retinal detachment may occur. The main symptom is a decrease in central or peripheral vision, although it may be asymptomatic in some patients. Management may involve photocoagulation or cryotherapy. A less severe form of the disease is called Leber's miliary aneurysms. Syn. retinal telangiectasia.
Crohn's disease A type of inflammatory, chronic bowel disease characterized by granulomatous inflammation of the bowel wall causing fever, diarrhoea, abdominal pain and weight loss. The ocular manifestations include acute iridocyclitis, scleritis, conjunctivitis and corneal infiltrates.
Devic's disease A demyelinative disease of the optic nerve, the optic chiasma and the spinal cord characterized by a bilateral acute optic neuritis with a transverse inflammation of the spinal cord. Loss of visual acuity occurs very rapidly and is accompanied by ascending paralysis. There is no treatment for this disease. Syn. neuromyelitis optica.
Eales' disease A non-specific peripheral retinal periphlebitis (i.e. an inflammation of the outer coat of a vein) that usually affects mostly young males, often those who have active or healed tuberculosis. It is characterized by recurrent haemorrhages in the retina and vitreous. This disease is a prime example of retinal vasculitis.
Fabry's disease An X-linked recessive disease caused by mutations in the gene encoding alpha-galactosidase A (GLA) and characterized by an abnormal accumulation of glycolipid in the tissues. It appears as small purple skin lesions on the trunk and there may be renal and cardiovascular abnormalities. Ocular signs include whorl-like corneal opacities, star-shaped lens opacities, and tortuous conjunctival and retinal blood vessels.
Graves' disease An autoimmune disorder in which immunoglobulin antibodies bind to thyroid-stimulating hormone receptors in the thyroid gland and stimulate secretion of thyroid hormones leading to hyperthyroidism. The main ocular manifestations (called Graves' ophthalmopathy) are exophthalmos, retraction of the eyelids (Dalrymple's sign), conjunctival hyperaemia, lid lag in which the upper lid follows after a latent period when the eye looks downward (von Graefe's sign), defective eye movements (restrictive myopathy) and optic neuropathy, besides increased pulse rate, tremors, loss of weight and diarrhoea. It typically affects women between the ages of 20 and 50 years. Most common signs associated with the disease are those of von Graefe and Moebius. Syn. thyrotoxicosis. If only the eye signs of the disease are present without clinical evidence of hyperthyroidism, the disease is called euthyroid or ophthalmic Graves' disease. Treatment begins with control of the hyperthyroidism (if present). Some cases may recover spontaneously with time. Mild cases of ocular deviations and restrictions may benefit from a prismatic correction. Corticosteroids and radiotherapy may be needed and surgery is a common form of management, especially when there is diplopia in the primary position of gaze. See accommodative infacility; exophthalmos; thyroid ophthalmopathy.
Harada's disease A disease characterized by bilateral exudative uveitis associated with alopecia, vitiligo and hearing defects. However, as many aspects of this entity overlap clinically and histopathologically with the Vogt-Koyanagi syndrome it is nowadays combined and called the Vogt-Koyanagi-Harada syndrome.
von Hippel's disease A rare disease, sometimes familial, in which haemangiomata occur in the retina where they appear ophthalmoscopically as one or more round, elevated reddish nodules. The condition is progressive and takes years before there is a complete loss of vision. Syn. angiomatosis retinae.
von Hippel-Lindau disease Retinal haemangioblastoma involving one or both eyes associated with similar tumours in the cerebellum and spinal cord and sometimes cysts of the kidney and pancreas. Ophthalmoscopic examination shows a reddish, slightly elevated tumour.
Leber's disease See Leber's hereditary optic atrophy.
Niemann-Pick disease An autosomal recessive inherited lipid storage disorder characterized by a partial destruction of the retinal ganglion cells and a demyelination of many parts of the nervous system. It is caused by mutation in the NPC1 gene. The condition usually involves children of Jewish parentage. When the retina is involved, there is a reddish central area (cherry-red spot) surrounded by a white oedematous area. The disease usually leads to death by the age of two. This disease is differentiated from Tay-Sachs disease because of its widespread involvement and gross enlargement of the liver and the spleen. Syn. sphingomyelin lipidosis. See Tay-Sachs disease.
Norrie's disease An inherited X-linked recessive disorder characterized by bilateral congenital blindness. It is caused by mutation in the norrin gene (NDP). The initial ocular presentation is leukocoria. It then progresses to cataract, corneal opacification and phthisis bulbi. The condition may be associated with mental retardation and hearing defects. Syn. oculoacoustico-cerebral degeneration; Andersen-Warburg syndrome.
Oguchi's disease An autosomal recessive, inherited night blindness occurring mainly in Japan. All other visual capabilities are usually unimpaired but the patient presents an abnormal golden brown fundus reflex in the light-adapted state, which becomes a normal colour with dark-adaptation (Mizuo phenomenon). It is presumed to be due to an abnormality in the neural network of the retina. The disease can be caused by mutation in the arrestin gene (SAG) or the rhodopsin kinase gene (GRK1).ophthalmic Graves' d. See Graves' disease.
Paget's disease Hereditary systemic disorder of the skeletal system accompanied by visual disturbances, the most common being retinal arteriosclerosis. See angioid streaks; arteriosclerosis.
von Recklinghausen's disease An autosomal dominant inherited disease with a gene locus at 17q11. It is caused by mutation in the neurofibromin gene. It is characterized by tumours in the central nervous system and in cranial nerves, enlarged head, 'café au lait' spots on the skin, choroidal naevi, optic nerve glioma, peripheral neurofibromas (e.g. on the eyelid) and Lisch nodules. Glaucoma may occur. Syn. neurofibromatosis type 1 (NF-1).
Refsum's disease See Refsum's syndrome.
Reiter's disease A systemic syndrome characterized by a triad of three diseases: urethritis, arthritis and conjunctivitis. Keratitis and iridocyclitis may follow as complications. It occurs mainly in young men typically following urethritis and less commonly after an attack of dysentery or acute arthritis, which usually affects the knees, ankles and Achilles tendon. Syn. Reiter's syndrome.
Sandhoff's disease An autosomal recessive inherited disease similar to Tay-Sachs disease with the same signs, but differing in that both the enzymes hexosaminidase A and B are defective and it develops more rapidly and can be found among the general population. The main ocular manifestation is a whitish area in the central retina with a cherry-red spot which eventually fades and the optic disc develops atrophy. Syn. Gm2 gangliosidosis type2.
sickle-cell disease A hereditary anaemia encountered among black and dark-skinned people due to a defect in the haemoglobin. It is characterized by retinal neovascularization, haemorrhages and exudates, cataract and subconjunctival haemorrhage. Syn. sickle-cell anaemia.
Spielmeyer-Stock disease See Batten-Mayou disease.
Stargardt's disease An autosomal recessive inherited disorder of the retina occurring in the first or second decade of life and affecting the central region of the retina. A few cases are inherited as an autosomal dominant trait. Known causes of the disease include a mutation in one of the following genes: ABCA4, CNGB3 and ELOVL4. There is an accumulation of lipofuscin within the retinal pigment epithelium, which interferes with its function. With time a lesion develops at the macula, which has a 'beaten-bronze' reflex. It is often surrounded by yellow-white flecks. There is a loss of central vision but peripheral vision is usually normal. Myopia is very common. Management usually consists of a high plus correction for near to magnify the retinal image and wearing UV-protecting sunglasses. Syn. Stargardt's macular dystrophy. See macular dysrophy; fundus flavi-maculatus.
Steinert's disease See myotonic dystrophy.
Still's disease See juvenile rheumatoid arthritis.
Sturge-Weber disease See Sturge-Weber syndrome.
Tay-Sachs disease An autosomal recessive lipid storage disorder caused by a deficiency of the enzyme hexosaminidase A which leads to an accumulation of Gm2 ganglioside (a fatty acid derivative) in the ganglion cells of both the retina and the brain. It has its onset in the first year of life, vision is affected and the central retina shows a whitish area with a reddish central area (cherry-red spot), which fades and the optic disc develops atrophy. Eventually the eye becomes blind and death occurs, usually at about the age of 30 months. It affects Jewish infants more than others by a factor of about ten to one. Syn. Gm2 gangliosidosis type 1; infantile amaurotic familial idiocy. See Niemann-Pick disease.
Terrien's disease See corneal ectasia.
Wagner's disease See Wagner's syndrome.
Wernicke's disease A disease characterized by disturbances in ocular motility, pupillary reactions, nystagmus and ataxia. It is mainly due to thiamin deficiency and is frequently encountered in chronic alcoholics. Syn. Wernicke's syndrome.
Wilson's disease A systemic disease resulting from a deficiency of the alpha-2-globulin ceruloplasmin beginning in the first or second decade of life. It is characterized by widespread deposition of copper in the tissues, tremor, muscular rigidity, irregular involuntary movements, emotional instability and hepatic disorders. The ocular features are degenerative changes in the lenticular nucleus and most noticeably a Kayser-Fleischer ring. Syn. hepatolenticular degeneration; lenticular progressive degeneration; pseudosclerosis of Westphal.
Patient discussion about disease
Q. My sister has this disease and she works at a daycare.Can this disease be airbourne? Children come to the daycare sick. Some of her co-workers were out from work because they got sick from some of the children.
Q. Mood- disorder? What will happen to the people who refuse treatment? I know someone whose mother got diagnosed with "mood- disorder" and now this person says that she don't have it. But all her brothers and sisters have this, and are on medication. Is there a way to save our family heritage?
Q. Whats schizoaffective disease its a mental disease