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Diseases » Myopia » Glossary
 

Glossary for Myopia

  • Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
  • Achromatopsia 3: A rare form of colorblindness which also involves myopia.
  • Achromatopsia incomplete, X-linked: An inherited form of blue color blindness.
  • Achromatopsia with Myopia: A rare form of colorblindness which also involves myopia.
  • Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
  • 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.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Amelo-cerebro-hypohidrotic syndrome: A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Aniridia -- ptosis -- mental retardation -- obesity, familial: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
  • Aniridia ptosis mental retardation obesity familial type: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
  • Anisometropia: This is where there is an inequality in refractive power of the two eyes
  • Aplasia cutis congenital -- intestinal lymphangiectasia: A rare disorder characterized by a skin defect and dilated intestinal lymph vessels.
  • Aplasia cutis myopia: A very rare syndrome characterized by a skin defect (localized absence of skin at birth) and nearsightedness and other eye anomalies.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Astigmatism: Vision impairment from irregularly shaped eye cornea or lens.
  • Atrophia aerata: A rare, inherited, slow progressing eye disease.
  • Auricular abnormalities -- cleft lip with or without cleft palate -- ocular abnormalities: A rare syndrome characterized by the association of external ear and eye abnormalities, cleft lip and sometimes a cleft palate.
  • Auriculoocular anomalies -- cleft lip: A very rare syndrome characterized by the association of abnormal external ears and a cleft lip and sometimes a cleft palate. Only two cases of the condition has been reported.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
  • Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
  • Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
  • Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
  • Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
  • Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
  • Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
  • Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
  • Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
  • Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency: A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor.
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Brachymetapody, anodontia, hypotrichosis, albinoidism: A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of the upper lip.
  • Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
  • Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
  • Buttiens-Fryns syndrome: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
  • CRAPB: A rare inherited eye disorder involving slow-progressing chorioretinal damage which leads to vision impairment.
  • Camptodactyly -- joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
  • Cataract, posterior polar, 1: An inherited form of cataract caused by a defect on chromosome 1pter-p36.1.
  • Cataract-microcornea syndrome: A rare disorder characterized mainly early onset cataracts, small corneas and myopia.
  • Cervenka's syndrome: A rare syndrome characterized by joint and facial abnormalities as well as nearsightedness and degenerative eye problems.
  • Chorioretinal atrophy, progressive bifocal: A slow-progressing, inherited, degenerative eye disease.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 9, Tetrasomy 9p: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Cohen-Hayden syndrome: A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head.
  • Cone-Rod Dystrophy, X-linked, 1: An inherited eye disease characterized by progressive deterioration of mainly the retinal cones. The type and severity of symptoms may vary with patients have various degrees of involvement of the rods and cones. Type X1 is linked to a defect on chromosome Xp21.1.
  • Cone-Rod Dystrophy, X-linked, 2: An inherited eye disease characterized by progressive deterioration of mainly the retinal cones. The type and severity of symptoms may vary with patients have various degrees of involvement of the rods and cones. Type X2 is linked to a defect on chromosome Xq27.
  • Cone-Rod Dystrophy, X-linked, 3: An inherited eye disease characterized by progressive deterioration of mainly the retinal cones. The type and severity of symptoms may vary with patients have various degrees of involvement of the rods and cones. Type X3 is linked to a defect on chromosome Xp11.23.
  • Corneal dystrophy -- ichthyosis -- microcephaly -- mental retardation: A very rare syndrome characterized by vision loss, scaly skin, small head and mental retardation.
  • Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
  • Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Cutis Laxa with Bone Dystrophy: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa with Growth and Developmental Delay: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa with or without Congenital Disorder of Glycosylation: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa, Autosomal Recessive, Type IIA: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa, Debre Type: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
  • Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
  • Diabetic Lens Osmosis: Eye lens vision changes due to diabetic sugars; usually reversible.
  • 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.
  • EDS V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
  • Ehlers-Danlos syndrome: A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group.
  • Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
  • Ehlers-Danlos syndrome type V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
  • Ehlers-Danlos syndrome, cardiac valvular form: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility.
  • Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
  • Encephalopathy due to sulphite oxidase deficiency: An inborn error of metabolism where an enzyme (sulphite oxidase) deficiency results in encephalopathy. Symptoms usually start at birth.
  • Euhidrotic ectodermal dysplasia: A rare syndrome characterized mainly by tooth, hair and facial abnormalities.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Eye conditions: Any condition that affects the eyes
  • Faciooculoacousticorenal syndrome: A very rare syndrome characterized by facial, eye, ear and kidney abnormalities.
  • Flynn-Aird syndrome: A rare inherited disorder where neurological degeneration causes symptoms such as dementia, ataxia, eye problems, skin disorders and muscle wasting.
  • Forsius-Eriksson syndrome: A rare inherited disorder characterized by reduced eye pigmentation and various eye problems. The disorder is inherited in a familial X-linked manner so only males manifest the symptoms whereas females may be asymptomatic or suffer mild symptoms.
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Fuchs atrophia gyrata chorioideae et retinae: A very rare disorder involving progressive degeneration of particular eye structures (choroids, pigment epithelium and retina). The condition causes the peripheral and night vision to progressively deteriorate and ultimately blindness occurs.
  • Furlong-Kurczynski-Hennessy syndrome: A very rare syndrome characterized by the association of premature fusion of skull bones with Marfanoid features. The disorder arises from abnormal connective tissue.
  • Gamborg nielsen syndrome: A rare genetic disorder characterized by hair, tooth and nail disorders.
  • Gastrocutaneous syndrome: A arare inherited disorder characterized by peptic ulcers, hiatus hernia, eye abnormalities and skin pigmentation.
  • Gillum-Anderson syndrome: A rare genetic condition characterized by dislocation of eye lens, nearsightedness and drooping upper eyelid.
  • Head Conditions: Conditions that affect the head
  • Heckenlively syndrome: A rare syndrome characterized by eye anomalies, behavioral problems and abnormal amino acid metabolism.
  • Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
  • Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
  • Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
  • Homocystinuria syndrome: A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis.
  • Hyperopia: Far-sightedness often requiring glasses
  • Hyperornithinemia: Excessive levels of ornithine in the blood caused by a deficiency of mitochondrial ornithine aminotransferase.
  • Hyperoxia: A high level of oxygen in body tissues. It can be caused by exposure to high atmospheric pressure or long term inhalation of high oxygen concentrations. The high levels of oxygen may affect the lungs, nervous system or the eyes and thus can result in varying symptoms.
  • Hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood.
  • Hypomelanosis of Ito: A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities.
  • 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.
  • Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation: A rare syndrome characterized mainly by a small head, brain anomaly, short digits, mental retardation and an eye defect.
  • Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
  • Kenny-Caffey Syndrome: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
  • Kenny-Caffey syndrome, Type 1: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities. Type 1 is inherited in a recessive manner and is caused by a genetic defect located at chromosome 1q42-q43.
  • Kenny-Caffey syndrome, Type 2: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
  • Keratoconus: A rare degenerative eye disorder where the corneas of the eye become progressively thinner and cone-shaped which affects vision.
  • Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
  • Knobloch syndrome: A rare genetic syndrome characterized by detachment of the retina of the eye and an occipital encephalocele (protrusion of brain tissue through gap in skull at the back of the head).
  • Kohlschutter-Tonz syndrome: A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development.
  • Kozlowski-Brown-Hardwick syndrome: A very rare syndrome characterized mainly by various skeletal anomalies, unusual facial appearance, eye abnormalities and communicating hydrocephaly.
  • Lens disorders: Any disorder that affects the lens of ones eye
  • Levic-Stefanovic-Nikolic syndrome: A very rare inherited syndrome characterized mainly by mental retardation, ophthalmoplegia and a fissured tongue.
  • Limb deficiencies distal micrognathia: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
  • Lissencephaly with cerebellar hypoplasia, recessive: Abnormal brain development where the brain is abnormally smooth and the cerebellum is underdeveloped.
  • Lymphedema, microcephaly and chorioretinopathy syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Lymphoedema -- Microcephaly -- chorioretinopathy: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • MLCRD Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
  • Marfan-Like syndrome: Any congenital condition with a group of symptoms that resembles Marfan syndrome but doesn't quite fulfill all the criteria. Marfan syndrome is a connective tissue disorder that affects the skeleton, lungs, eyes, heart and blood vessels.
  • Marfanoid syndrome, da Silva type: A rare syndrome characterized by visceral diverticula and the tall thin body type and long hands associated with Marfan syndrome. Other features of Marfan syndrome may also involved - e.g. eye abnormalities.
  • Marshall syndrome: A rare genetic disorder characterized by a distinctive face and vision and hearing impairment.
  • Matsoukas syndrome: An extremely rare condition characterized by mental retardation, eye problems, facial anomalies and joint problems.
  • Matsoukas-Liarikos-Giannika syndrome: A very rare syndrome characterized mainly by mental retardation, short stature and eye and joint abnormalities.
  • Mental retardation -- myopathy -- short stature -- endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
  • 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.
  • Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
  • Microcephaly -- lymphoedema -- Chorioretinopathy Dysplasia Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Microcephaly -- lymphoedema -- chorioretinopathy: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Microcephaly -- mental retardation -- retinopathy: A very rare syndrome characterized mainly by a small head, mental retardation and retinal disease.
  • Microcornea -- corectopia -- macular hypoplasia: A very rare eye disorder involving small corneas and other anomalies.
  • Microphthalmos -- short stature -- multiple joint dislocation syndrome: A rare inherited disorder characterized by small eyes, short stature and multiple joint dislocations.
  • Microspherophakia with hernia: A rare disorder characterized by myopia, detached retina, inguinal hernia and small, spherical, upward dislocated eye lens.
  • Mousa-Al Din-Al Nassar syndrome: A very rare syndrome characterized mainly by ataxia, spasticity and eye anomalies.
  • Muscle-eye-brain syndrome: A genetic disease characterized by muscle weakness, congenital brain abnormalities and eye problems as well as other defects.
  • Myopia: Short-sightedness often requiring glasses
  • Myopia 1: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 1 is linked to a gene on chromosome Xq28.
  • Myopia 10: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 10 is linked to a gene on chromosome 8p23.
  • Myopia 11: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 11 is linked to a gene on chromosome 4q22-q27.
  • Myopia 12: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 12 is linked to a gene on chromosome 2q37.1.
  • Myopia 13: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 13 is linked to a gene on chromosome Xq23-q25.
  • Myopia 14: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 14 is linked to a gene on chromosome 1p36.
  • Myopia 15: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 15 is linked to a gene on chromosome 10q21.1.
  • Myopia 16: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 16 is linked to a gene on chromosome 5p15.
  • Myopia 2: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 2 is linked to a gene on chromosome 18p11.31.
  • Myopia 3: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 3 is linked to a gene on chromosome 12q.
  • Myopia 4: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 4 is linked to a gene on chromosome 7p15.
  • Myopia 5: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 5 is linked to a gene on chromosome 17q.
  • Myopia 6: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 6 is linked to a gene on chromosome 22q12.
  • Myopia 7: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 7 is linked to a gene on chromosome 11p13.
  • Myopia 8: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 8 is linked to a gene on chromosome 3q26.
  • Myopia 9: Myopia is an eye disorder characterized by the ability to see close objects clearly but distant objects appear blurry. It is also known as shortsightedness or nearsightedness and the underlying process involved is an a refractive error. Researchers have discovered a number of genes linked to an increased susceptibility of developing myopia. Having this genetic anomaly does not mean a person will definitely develop myopia but their chances are increased, especially if certain triggering factors are also present e.g. visual stress due to close work (computers, reading). Type 9 is linked to a gene on chromosome 4q12.
  • Myopia, infantile severe: A severe infantile form of myopia (nearsightedness). The vision problem is occurs at birth or in the first few months of life.
  • Myopia, severe: A severe form of myopia (nearsightedness).
  • Neurofibromatosis-Noonan syndrome: A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck).
  • 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, 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.
  • Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
  • Oculo skeletal renal syndrome: A very rare syndrome characterized mainly by eye, skeletal and kidney problems.
  • Oculo-dento-digital dysplasia dominant: A rare disorder characterized by webbing of some fingers, small corneas, enamel abnormalities and slow-growing, dry hair.
  • Opthalmoplegia -- mental retardation -- lingua scrotalis: A very rare syndrome characterized mainly by weak or paralyzed eye muscles, mental retardation and a fissured tongue.
  • Optic atrophy opthalmoplegia ptosis deafness myopia: A rare syndrome characterized by the association of optic atrophy, ophthalmoplegia, droopy eyelids, deafness and myopia.
  • Partington-Anderson syndrome: A very rare syndrome characterized mainly by retarded growth before and after birth, developmental delay, small head and distinctive facial appearance.
  • Pierre Robin syndrome -- fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
  • Pierre-Robin syndrome with fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
  • Pitt-Hopkins syndrome: A very rare syndrome characterized mainly by mental retardation with periods of overbreathing and apnea.
  • Posterior vitreous detachment: Detachment of the eye's internal jelly vitreous from the rear of the eye
  • Presbyopia: Age-related far-sightedness often requiring glasses
  • Proteus like syndrome mental retardation eye defect: A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head.
  • Proximal spinal muscular atrophy, type 3: A rare inherited disorder where motor neuron degeneration causes progressive muscle weakness and atrophy. The proximal muscles tend to be more affected than the distal ones and the legs tend to be more affected than the arms.
  • Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.
  • Pseudoxanthoma elasticum, dominant form: A very rare dominantly inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
  • Pseudoxanthoma elasticum, forme fruste: An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system.
  • Pseudoxanthoma elasticum, recessive form: A very rare recessively inherited disorder affecting elastic tissues in the body. The skin, eyes and heart blood vessels can be affected.
  • Refractive Eye Disorders: Any disorder that affects the ability of the eye to focus on an object
  • Renal Magnesium Wasting -- hypercalciuria -- nephrocalcinosis -- Ocular disorders: A rare form of progressive kidney disease associated with eye problems.
  • Renal hypomagnesemia -- hypercalciuria -- nephrocalcinosis: A rare form of kidney disease which is progressive.
  • Retinal degeneration -- nanophthalmos -- glaucoma: A very rare syndrome characterized by eye problems that has an early onset.
  • Retinal detachment: Partial or total detachment of retina from the back of the eye.
  • Retinopathic oxygen toxicity: Eye damage caused by excessive exposure to high oxygen levels. This can occur in closed circuit oxygen rebreather divers who have excessive exposure.
  • Rieger anomaly -- partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
  • Santavuori Disease:
  • Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
  • Short limb dwarf mental retardation myopia: A rare syndrome characterized mainly by short stature, mental retardation and myopia.
  • Short stature mental retardation eye anomalies: A very rare syndrome characterized mainly by short stature, mental retardation and eye defects.
  • Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
  • Sinus node disease and myopia: A very rare disorder characterized by nearsightedness
  • Skeletal dysplasia -- orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
  • Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
  • Spinal muscular atrophy, type 3: A rare inherited disorder where motor neuron degeneration causes progressive muscle weakness and atrophy.
  • Spondyloepiphyseal dysplasia -- nephritic syndrome:
  • Spondyloepiphyseal dysplasia -- nephrotic syndrome: A very rare syndrome characterized by skeletal and immunity abnormalities. The immune defect leads to progressive kidney dysfunction which can ultimately cause death during the first decade.
  • Spondyloepiphyseal dysplasia, congenita: A rare genetic bone growth disorder characterized by prenatal growth deficiency, myopia and short trunk.
  • Spondylometaphyseal dysplasia, Algerian type: A severe, dominantly inherited skeletal disorder involving abnormal bone development. The condition is characterized by knock knees, curved spine, short stature and abnormal growth of long bones.
  • Temtamy syndrome: A rare disorder characterized by a brain abnormality, unusual facial appearance and eye coloboma.
  • Thanos syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus).
  • Thanos-Stewart-Zonana Syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Total colorblindness with Myopia: A rare form of colorblindness which also involves myopia.
  • Van Bogaert-Hozay syndrome: A rare disorder characterized by destruction of ends of finger bones, mental retardation, skin wasting and eye and facial abnormalities.
  • Van den Bosch syndrome: A syndrome which is characterised by mental deficiency, choroideremia, acrokeratosis, verruciformis, anhidrosis, skeletal deformity
  • Verloes Van Maldergem Marneffe syndrome: A condition that is characterised by dwarfing skeletal dysplasia.
  • Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
  • Vision loss: Impaired vision or loss of vision
  • Vitreoretinal degeneration: A condition characterised by the degeneration of the vitreous and retina of the eye
  • Vitreous detachment: Detachment of the eye's internal jelly vitreous from the rear or side of the eye
  • Volubilis, syndrome du: A rare birth defect of the optic papilla which is the part of the eye where the optic nerve emerges. Usually only one eye is affected.
  • Wagner syndrome 1: A rare genetic eye disorder characterized by the early onset of cataracts, retinal degeneration and retinal detachment
  • Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
  • Warman Mulliken Hayward syndrome: This syndrome is a form of craniosynostosis
  • Weill-Marchesani Syndrome: A rare genetic disorder characterized by short stature and craniofacial, eye, tooth and limb abnormalities.

 

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