{"Name":"Myopia 6","DiseaseID__c":"GARD:0009937","id":9937,"encodedName":"myopia-6","IsDeleted":false,"Disease_Name_Full__c":"Myopia 6","Xref_IDs__c":"C1837148; C536105; MEDGEN:324696; MONDO:0012154; OMIM:608908","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012154","Disease_Description__c":"Any myopia in which the cause of the disease is a mutation in the SCO2 gene.","GARD_Name__c":"Myopia 6","GARD_Synonym__c":"myopia (disease) caused by mutation in sco2; myopia type 6; myp6; sco2 myopia (disease)","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment. Nearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood. For normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be. Nearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a persons nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other. Eye doctors often refer to nearsightedness less than -5 or -6 diopters as \"common myopia.\" Nearsightedness of -6 diopters or more is commonly called \"high myopia.\" This distinction is important because high myopia increases a persons risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term \"pathological myopia\" is used to describe cases in which high myopia leads to tissue damage within the eye.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:608908","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012154","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment. Nearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood. For normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be. Nearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a persons nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other. Eye doctors often refer to nearsightedness less than -5 or -6 diopters as \"common myopia.\" Nearsightedness of -6 diopters or more is commonly called \"high myopia.\" This distinction is important because high myopia increases a persons risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term \"pathological myopia\" is used to describe cases in which high myopia leads to tissue damage within the eye.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"myopia (disease) caused by mutation in sco2; myopia type 6; myp6; sco2 myopia (disease)","Name":"Myopia 6","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009937","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324696","Source__c":"C1837148","Xref__c":"MEDGEN:324696"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536105","Source__c":"MONDO:0012154","Xref__c":"C536105"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837148","Source__c":"C1837148","Xref__c":"C1837148"},{"URL__c":"https://www.omim.org/entry/608908","Source__c":"C1837148; MONDO:0012154","Xref__c":"OMIM:608908"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012154","Source__c":"GARD:0009937","Xref__c":"MONDO:0012154"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCO2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007800","HPO_Synonym__c":"Globe elongated; Increased axial globe length; Increased front to back length of eyeball","HPO_Name__c":"Increased axial length of the globe","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608908","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the fundus of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001098","HPO_Synonym__c":"Abnormality of the fundus","HPO_Name__c":"Abnormal fundus morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["myopia (disease) caused by mutation in sco2"," myopia type 6"," myp6"," sco2 myopia (disease)"]}