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Diseases » Night blindness » Glossary
 

Glossary for Night blindness

  • Age-related macular degeneration: Deterioration of the central field of vision.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Anophthalmia -- short stature -- obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
  • Avitaminosis: A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (avitaminosis A). Symptoms depend on the type and degree of vitamin deficiency. Lack of various vitamins can affect just about every part of the body including the nervous system.
  • Blindness: The inability to see out of the eyes
  • Blurred vision: Blurriness of vision or images.
  • Bothnia retina dystrophy: A genetic eye disease which occurs predominantly in a part of Sweden.
  • CAR syndrome: A progressive autoimmune eye disease caused by cancer that occurs outside the eye area. It is a type of paraneoplasic cancer which refers to distant neurological effects caused by a cancer. Eye symptoms usually occur before the cancer is detected.
  • Cataracts: Cloudy areas on the eye's cornea interfering with vision.
  • Celiac Disease: Digestive intolerance to gluten in the diet.
  • Cholestyramine -- Teratogenic Agent: There is evidence to indicate that exposure to Cholestyramine (cholesterol-lowering 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.
  • Cholybar -- Teratogenic Agent: There is evidence to indicate that exposure to Cholybar (cholesterol-lowering 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.
  • Choroideremia: A rare, inherited, progressive eye disease that causes degeneration of the retina and blindness. The disease usually only affects males.
  • Cirrhosis of the liver: Scarring of the liver from alcohol or other causes.
  • Cone-Rod Dystrophy 1: 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 1 results from a genetic defect on chromosome 18q21.1-q21.3. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 10: 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 10 results from a genetic defect on chromosome 1q22. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 11: 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 11 results from a genetic defect on chromosome 19p13.3. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 12: 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 12 results from a genetic defect on chromosome 4p15.3. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 13: 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 13 results from a genetic defect on chromosome 14q11. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • 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.
  • Cone-Rod Dystrophy 3: 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 3 results from a genetic defect on chromosome 1p2-p13. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 5: 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 5 results from a genetic defect on chromosome 17p13. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 6: 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 6 results from a genetic defect on chromosome 17p13.1. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 7: 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 7 results from a genetic defect on chromosome 6q12-q13. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 8: 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 8 results from a genetic defect on chromosome 1q12-q24. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cone-Rod Dystrophy 9: 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 9 results from a genetic defect on chromosome 8p11. Initially, visual acuity becomes impaired followed by loss of peripheral vision.
  • Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
  • Desferrioxamine toxicity: Excessive intake of desferrioxamine (a chelating agent used to treat iron storage disorders) can result in vision problems. Cessation of the drug can result in some improvement in vision
  • Diabetes: Failing or reduced ability of the body to handle sugars.
  • Dry eyes: Autoimmune disease damaging the eye tear ducts and other glands.
  • Enhanced S-Cone Syndrome: A rare inherited form of eye disease.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Fundus albipunctatus: A rare genetic eye disease which causes flecks in the retina.
  • Ghose-Sachdev-Kumar syndrome: A rare eye disorder characterized by small eyes which suffer glaucoma and progressive vision loss.
  • Head Conditions: Conditions that affect the head
  • Hyperornithinemia: Excessive levels of ornithine in the blood caused by a deficiency of mitochondrial ornithine aminotransferase.
  • Keratomalacia: A rare eye disease that results from a deficiency of vitamin A.
  • LORD: A rare, dominantly inherited eye disorder involving degeneration of the retina that starts during the fifth or sixth decade.
  • Macular dystrophy, concentric annular: A rare genetic eye disorder characterized by the development of a pigmented ring around a central area that appears normal. It is a relatively benign disorder with vision impairment generally occurring later in life.
  • Malabsorption: Failure to digest nutrients properly
  • Mental retardation -- hypocupremia -- hypobetalipoproteinemia: A very rare syndrome characterized mainly by mental retardation, low blood copper levels and low betalipoprotein levels in the blood.
  • Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Motor and Sensory Neuropathy, Optic Atrophy and Sensorineural Hearing Loss: A very rare inherited condition characterized by vision and hearing impairment and muscle and sensory problems. Hearing impairment is progressive and usually starts in early childhood.
  • Motor and Sensory Neuropathy, Pigmentary Retinopathy and Sensorineural Hearing Loss: A condition described in three generations of one family. The condition is characterized by vision and hearing impairment and muscle and sensory problems. Hearing impairment is progressive and usually starts in early childhood.
  • Mucolipidosis type 1: An inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a milder form of the condition than sialidosis type II.
  • Neuraminidase deficiency: A rare inherited disorder involving an enzyme (neuraminidase and beta-galactosidase) deficiency which results in a build up of glycoproteins (sialyloligosaccharides) in the urine.
  • Night blindness: Poor vision in darkness or dim light
  • Night blindness -- skeletal anomalies -- unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
  • Night blindness, congenital stationary: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The disorder is non-progressive.
  • Night blindness, congenital stationary, autosomal dominant: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is dominantly inherited.
  • Night blindness, congenital stationary, type 1A: A rare X-linked disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is linked to a defect at chromosome Xp11.4 and occurs only in males though females may be carriers.
  • Night blindness, congenital stationary, type 1B: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is recessively inherited and is linked to a defect at chromosome 5q35.
  • Night blindness, congenital stationary, type 2A: A rare X-linked disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is linked to a defect at chromosome Xp11.23 and occurs only in males though females may be carriers.
  • Night blindness, congenital stationary, type 2B: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is recessively inherited and is linked to a defect at chromosome 11q13.1.
  • Noble-Bass-Sherman syndrome: A very rare syndrome characterized by various eye anomalies.
  • Obal syndrome: The association of eye problems with severe malnutrition. The condition occurred frequently in soldiers, prisoners of war and people in concentration camps.
  • Oguchi disease: A rare genetic eye disorder characterized by night blindness. The night vision impairment is not progressive. The fundus color returns to a normal red when exposed to lack of light for an hour or so (Mitzuo's phenomenon).
  • Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
  • Pigmentary retinopathy: An inherited eye disorder involving degeneration of the retina.
  • Questran -- Teratogenic Agent: There is evidence to indicate that exposure to Questran (cholesterol-lowering 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.
  • Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
  • Refsum disease with increased pipecolic acidemia: A rare disorder involving all the clinical features of Refsum disease as well as high blood levels of L-pipecolic acid. Refsum disease is a metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
  • Retinal cone dystrophy 3A: An inherited eye disease characterized by the deterioration of the retinal cones. Type 3A is linked to a defect on chromosome 12p13.
  • Retinal cone dystrophy 3B: An inherited eye disease characterized by the deterioration of the retinal cones. Type 3B is linked to a defect on the PKCNV2 gene.
  • Retinal degeneration: A group of disorders involving degeneration of the retina. Retinitis pigmentosa and macular degeneration are examples. The disorder is usually inherited.
  • Retinitis Pigmentosa: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss.
  • Retinitis Pigmentosa 10: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 10 is linked to a genetic defect on chromosome 7q31.3-q32.
  • Retinitis Pigmentosa 11: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 11 is linked to a genetic defect on chromosome 19q13.4.
  • Retinitis Pigmentosa 12: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 12 is linked to a genetic defect on chromosome 1q31-q32.1.
  • Retinitis Pigmentosa 13: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 13 is linked to a genetic defect on chromosome 17p13.3.
  • Retinitis Pigmentosa 14: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 14 is linked to a genetic defect on chromosome 6p21.3.
  • Retinitis Pigmentosa 17: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 17 is linked to a genetic defect on chromosome 17q23.
  • Retinitis Pigmentosa 18: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 18 is linked to a genetic defect on chromosome 1q21.2.
  • Retinitis Pigmentosa 19: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 19 is linked to a genetic defect on chromosome 1p21-p13.
  • Retinitis Pigmentosa 2: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 2 is linked to a genetic defect on chromosome Xp11.3.
  • Retinitis Pigmentosa 20: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 20 is linked to a genetic defect on chromosome 1p31.
  • Retinitis Pigmentosa 22: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 22 is linked to a genetic defect on chromosome 16p12.3-p12.1.
  • Retinitis Pigmentosa 23: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 23 is linked to a genetic defect on chromosome Xp22.
  • Retinitis Pigmentosa 24: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 24 is linked to a genetic defect on chromosome Xq26-q27.
  • Retinitis Pigmentosa 25: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 25 is linked to a genetic defect on chromosome 6q12.
  • Retinitis Pigmentosa 26: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 26 is linked to a genetic defect on chromosome 2q31.2-q32.3.
  • Retinitis Pigmentosa 28: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 28 is linked to a genetic defect on chromosome 2p15-p11.
  • Retinitis Pigmentosa 30: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 30 is linked to a genetic defect on chromosome 17q25.
  • Retinitis Pigmentosa 31: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 31 is linked to a genetic defect on chromosome 9p21.
  • Retinitis Pigmentosa 32: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 32 is linked to a genetic defect on chromosome 1p21.3-p13.3.
  • Retinitis Pigmentosa 33: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 33 is linked to a genetic defect on chromosome 2q11.2.
  • Retinitis Pigmentosa 34: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 34 is linked to a genetic defect on chromosome Xq28.
  • Retinitis Pigmentosa 35: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 35 is linked to a genetic defect on chromosome 1q22.
  • Retinitis Pigmentosa 36: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 36 is linked to a genetic defect on chromosome 17q22.
  • Retinitis Pigmentosa 37: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 37 is linked to a genetic defect on chromosome 15q23.
  • Retinitis Pigmentosa 38: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 38 is linked to a genetic defect on chromosome 2q14.1.
  • Retinitis Pigmentosa 39: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 39 is linked to a genetic defect on chromosome 1q41.
  • Retinitis Pigmentosa 4: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 4 is linked to a genetic defect on chromosome 3q21-q24.
  • Retinitis Pigmentosa 40: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 40 is linked to a genetic defect on chromosome 4p16.3.
  • Retinitis Pigmentosa 41: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 41 is linked to a genetic defect on chromosome 4p15.3.
  • Retinitis Pigmentosa 42: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 42 is linked to a genetic defect on chromosome 7p15.3.
  • Retinitis Pigmentosa 43: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 43 is linked to a genetic defect on chromosome 5q31.2-q34.
  • Retinitis Pigmentosa 44: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 44 is linked to a genetic defect on chromosome 10q23.
  • Retinitis Pigmentosa 45: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 45 is linked to a genetic defect on chromosome 16q13.
  • Retinitis Pigmentosa 46: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa.
  • Retinitis Pigmentosa 47: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 47 is linked to a genetic defect on chromosome 2q37.1.
  • Retinitis Pigmentosa 48: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 48 is linked to a genetic defect on chromosome 6p21.1.
  • Retinitis Pigmentosa 49: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 49 is linked to a genetic defect on chromosome 4p12-cen.
  • Retinitis Pigmentosa 6: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 6 is linked to a genetic defect on chromosome Xp21.3-p21.2.
  • Retinitis Pigmentosa 7: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 7 is linked to a genetic defect on chromosome 6p21.1.
  • Retinitis Pigmentosa 9: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 9 is linked to a genetic defect on chromosome 7p14.2.
  • Retinitis pigmentosa 1: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 1 is linked to a genetic defect on chromosome 8q11-q13.
  • Retinitis pigmentosa 27: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 27 is linked to a genetic defect on chromosome 14q11.1-q11.2.
  • Retinitis pigmentosa 29: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 29 is linked to a genetic defect on chromosome 4q32-q34.
  • Retinitis punctata albescens: A rare genetic eye disease which causes flecks in the retina.
  • Retinoschisis with early hemeralopia: A rare inherited form of eye disease.
  • Sialidosis type 1: A rare inherited condition where deficiency of an enzyme called neuraminidase results in epilepsy, ataxia and vision problems as well as characteristic cherry red spots in the macula of the eye. Symptoms may be exacerbated by factors such as smoking and menstrual cycles.
  • Sialidosis type 1 and 3: A rare inherited biochemical disorder involving the deficiency of an enzyme (alpha-N-acetylneuraminidase) which results in the harmful accumulation of certain chemicals (sialyloligosaccharides and sialylglycopeptides) in various body tissues.
  • Sialidosis type 2: A very rare inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a severe form of Sialidosis type I.
  • Sialidosis type I: An inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a milder form of the condition than sialidosis type II.
  • Sialidosis type II: A very rare inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a severe form of Sialidosis type I.
  • Tapetal-like reflex: A rare genetic eye disorder characterized by distinctive appearance of the macula which isn't associated with vision loss.
  • Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
  • Usher Syndrome Type 1: A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood.
  • Usher syndrome, type 1B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
  • Usher syndrome, type 1C: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 11p15.1.
  • Usher syndrome, type 1D: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
  • Usher syndrome, type 1E: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 21q21.
  • Usher syndrome, type 1F: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
  • Usher syndrome, type 2A: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
  • Usher syndrome, type 2B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
  • Usher syndrome, type 2C: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
  • Vasterbotten dystrophy: A genetic eye disease which occurs predominantly in a part of Sweden.
  • Vitamin A deficiency: Dietary deficiency of vitamin A

 

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