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Diseases » Retinopathy » Glossary
 

Glossary for Retinopathy

  • Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.
  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Aceruloplasminemia: A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas and liver. The iron overload results a neurodegeneration (ataxia, dementia and extrapyramidal disorders) and diabetes. Patients with only a partial absence of ceruloplasmin are often asymptomatic.
  • Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Al Gazali -- Nair syndrome: A very rare syndrome characterized by bone abnormalities, eye problems, seizures and developmental delay. The reported cases involved related parents.
  • Alagille Syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Albinism: A rare inherited condition characterized by a lack of pigmentation in the hair, skin and/or eyes.
  • Alcohol abuse: Excessive use of alcohol ranging from binge drinking to severe alcoholism
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alström Syndrome: A progressive condition which is characterized by deafness, obesity and visual problems in childhood that may lead to diabetes and kidney failure in adulthood
  • Atherosclerosis: Atherosclerosis is a syndrome affecting arterial blood vessels. It is a chronic inflammatory response in the walls of arteries, in large part due to the accumulation of macrophage white blood cells and promoted by low density (especially small particle) lipoproteins (plasma proteins that carry cholesterol and triglycerides) without adequate removal of fats and cholesterol from the macrophages by functional high density lipoproteins (HDL). It is commonly referred to as a hardening or furring of the arteries. It is caused by the formation of multiple plaques within the arteries.
  • Bestrophinopathy, atuosomal recessive: A disorder of the retinas which manifests as loss of central vision loss.
  • Bleeding symptoms: Any type of bleeding symptoms.
  • Blindness: The inability to see out of the eyes
  • Candidiasis: Fungal infection of moist areas such as mouth or vagina
  • Cat scratch disease: An infectious disease transmitted through a cat's bite, scratch or lick and resulting primarily in lymph node pain and swelling. The condition can be mild or severe.
  • Chloroquine -- Teratogenic Agent: There is evidence to indicate that exposure to Chloroquine (an antimalarial drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
  • Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
  • Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
  • Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
  • Cone-Rod Dystrophy 2: An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 2 results from a genetic defect on chromosome 19113.3. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Diabetes: Failing or reduced ability of the body to handle sugars.
  • Diabetic Retinopathy: Diabetic retinopathy is the most common diabetic eye disease and a leading cause of blindness in American adults. It is caused by changes in the blood vessels of the retina.
  • Eales Disease: A rare eye disorder characterized by sudden vision loss, problems with eye blood vessuls and reoccurring eye blood vessel hemorrhages as well as oozing of clear thick fluid from inside the eyeball. Usually occurs after a stressful situation, trauma or after waking up.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Eye conditions: Any condition that affects the eyes
  • Fabry's Disease: Genetic fat storage disorder
  • Familial polyposis -- classical: An inherited condition where polyps develop in the lining of the gastrointestinal tract. The polyps are initially benign but may become malignant if untreated.
  • Favre-Goldman syndrome: A type of eye disease inherited in a familial manner.
  • Flashes: Seeing small flashes of light
  • Floaters: Floating spots or spidery webs in front of the eyes
  • Gestational hypertension: Hypertension that occurs to a mother during pregnancy
  • HERNS syndrome: A rare inherited syndrome characterized by blood vessel disease which causes eye and kidney disease and strokes. Neurological manifestations tend to occur around the 2nd and 3rd decade of life due to the blood vessels in the brain being affected.
  • Head Conditions: Conditions that affect the head
  • Hereditary vascular retinopathie -- Raynaud phenomenon -- migraine: An inherited disorder characterized by a disease of the small retinal blood vessels, migrains and Raynaud's phenomenon.
  • High Cholesterol: High levels of blood cholesterol, triglycerides, or other lipids.
  • Human carcinogen -Tamoxifen: Tamoxifen is a drug used to reduce the risk of developing breast cancer but is also deemed to be carcinogenic to humans as it increases the risk of developing other cancers. The carcinogenicity of the substance may be influenced by the duration and level of exposure. Tamoxifen exposure is associated mainly with an increased risk of developing uterine cancer.
  • Hypertension: High blood pressure
  • Hypertrichosis retinopathy dysmorphism: A rare syndrome characterized mainly by the association of excessive hair, retinopathy and dysmorphism.
  • Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
  • Laurence-Moon Syndrome: A rare inherited disorder characterized by vision loss, impaired hormone production, mental retardation and spastic paraplegia.
  • MODY syndrome: A dominantly inherited form of type II diabetes that occurs in young people (less than 25 years old) and is not insulin-dependent. The diabetes results due to genetic mutations which leads to dysfunctional insulin-producing pancreatic cells. There are 6 different genetic mutations that can cause this type of diabetes.
  • MODY syndrome, type III: A dominantly inherited form of type II diabetes that occurs in young people (less than 25 years old) and is not insulin-dependent. MODY type 3 is due to a mutation of the hepatic transcriptor factor-1 gene on chromosome 12q24.2. The hyperglycemia in this form of the condition tends to increase with time and hence eventually requires treatment in the form of medication in many patients.
  • Macular hole: A hole in the eye's macula that affects the retina.
  • Melanoma of the choroid: A type of eye cancer that occurs in the pigment-producing cells of the choroid which is a layer beneath the retina consisting mainly of blood vessels.
  • Methylmalonic acidemia -- homocystinuria: A rare inborn error of metabolism which results in impaired vitamin B12 metabolism. There are a number of forms of this condition with variable severity.
  • Mitochondrial diseases, clinically indefinite: An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system.
  • Mucolipidosis IV: A condition which is characterized by the accumulation of both glycoaminoglycans and lipids in tissues
  • Neurofibromatosis Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
  • No symptoms: The absence of noticable symptoms.
  • Norrie syndrome: A rare form of blindness that occurs at birth or soon after due to eye defects. The severity and range of symptoms is variable.
  • Pregnancy: The condition of supporting a fetus from conception till birth.
  • Premature Birth: Early delivery of a fetus (before 37th week).
  • Progressive Rubella Panencephalitis: A very rare complication of rubella infection where neurological symptoms develop following a congenital rubella infection and very rarely with childhood rubella. It is believed that the condition is the result of persistent rubella virus infection.
  • Retina Conditions: Any condition that affects the retina of the eye
  • Retinal Vein Occlusion: A condition which is characterized by the occlusion of the retinal vein
  • Retinal detachment: Partial or total detachment of retina from the back of the eye.
  • Retinal tear: A condition that is characterised by a tear in the retina of the eye
  • Retinoblastoma: A very rare malignant tumor that originates in the retina.
  • Retinopathy -- anaemia- CNS anomalies: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
  • Retinopathy -- anemia -- CNS anomalies:
  • Retinopathy of prematurity: Eye problems that occur in premature underweight infants who are exposed to a high oxygen environment.
  • Revesz Debuse syndrome: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
  • Rubella congenital syndrome: The transplacental infection of a fetus with rubella
  • Rubella panencephalitis: A very rare complication of rubella infection where neurological symptoms develop following a congenital rubella infection and very rarely with childhood rubella. It is believed that the condition is the result of persistent rubella virus infection.
  • Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
  • Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
  • Split hand split foot nystagmus: A very rare syndrome characterized by a split deformity of the hands and feet as well as nystagmus.
  • Subacute Sclerosing Panencephalitis: A progressive neurological disorder involving inflammation of the brain caused by a complication of the measles virus. It can occur up to 10 years after the initial measles virus and may be due to a defective immune response to the virus or a reactivation of the virus.
  • Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
  • Type 1 diabetes: Severe insulin-treated diabetes typically occurring in young people.
  • Type 2 diabetes: Most common diabetes in adults, usually progressing slowly, mostly treated without insulin at diagnosis.
  • Vision Impairment: A condition that affects ones vision
  • Vision changes: Any change in vision or sight.
  • Visual floaters: Spots or dots that move across the field of vision.
  • Vitamin E deficiency: Deficiency of Vitamin E
  • Von Hippel-Lindau Disease: Genetic disease causing multiple benign tumors
  • Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.

 

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