{"Name":"Leber optic atrophy","DiseaseID__c":"GARD:0006870","id":6870,"encodedName":"leber-optic-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Leber optic atrophy","Xref_IDs__c":"58610003; C0917796; C84808; D029242; DOID:705; HP:0001112; MEDGEN:182973; MONDO:0010788; OMIM:535000; ORPHA:104","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010788","Disease_Description__c":"A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.","GARD_Name__c":"Leber optic atrophy","GARD_Synonym__c":"leber hereditary optic atrophy; leber hereditary optic neuropathy; leber optic atrophy features; leber optic degeneration; leber's disease; leber's hereditary optic neuropathy; leber's optic atrophy; lhon; lhon - leber hereditary optic neuropathy; lhon - leber's hereditary optic neuropathy; optic atrophy, hereditary, leber","Curated_Disease_Description_Source__c":"GARD:0006870","Curated_Disease_Description__c":"Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss.  Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens with a severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vision loss results from the death of cells in the nerve that relays visual information from the eyes to the brain (the optic nerve). Although central vision gradually improves in a small percentage of cases, in most cases the vision loss is profound and permanent. Vision loss is typically the only symptom of LHON; however, some families with additional signs and symptoms have been reported. In these individuals, the condition is described as 'LHON plus.' In addition to vision loss, the features of LHON plus can include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis, which is a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:104","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010788","ORPHANET_ID__c":"ORPHA:104","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía óptica hereditaria de leber","Spanish_Description_Source__c":"ORPHA:104","Spanish_Description__c":"Es una neuropatía óptica hereditaria poco frecuente que se caracteriza por una presentación súbita de pérdida indolora de la visión central, pérdida de las células ganglionares de la retina y atrofia óptica.","Spanish_Disease_Name__c":"neuropatía óptica hereditaria de leber","Spanish_GARD_Synonym__c":"atrofia óptica de leber; lhon; nohl","Category_Linearization__c":"ORPHA:97966","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":"Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss.  Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens with a severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vision loss results from the death of cells in the nerve that relays visual information from the eyes to the brain (the optic nerve). Although central vision gradually improves in a small percentage of cases, in most cases the vision loss is profound and permanent. Vision loss is typically the only symptom of LHON; however, some families with additional signs and symptoms have been reported. In these individuals, the condition is described as 'LHON plus.' In addition to vision loss, the features of LHON plus can include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis, which is a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems.","Curated_Disease_Description_Source__c":"GARD:0006870","GARD_Synonym__c":"leber hereditary optic atrophy; leber hereditary optic neuropathy; leber optic atrophy features; leber optic degeneration; leber's disease; leber's hereditary optic neuropathy; leber's optic atrophy; lhon; lhon - leber hereditary optic neuropathy; lhon - leber's hereditary optic neuropathy; optic atrophy, hereditary, leber","Name":"Leber optic atrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Australian Mitochondrial Disease Foundation","Website__c":"https://www.amdf.org.au/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación de Enfermos de Patologías Mitocondriales","Website__c":"http://www.aepmi.org"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"International Foundation for Optic Nerve Disease","Website__c":"http://www.ifond.org"},{"Account_Name__c":"Leber's Hereditary Optic Neuropathy","Website__c":"https://www.lhon.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:104"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:104"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0917796"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006870","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1224","Xref__c":"NBK1224"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1174","Source__c":"Gene Review","Xref__c":"NBK1174"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0917796","Source__c":"C0917796","Xref__c":"C0917796"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A705","Source__c":"MONDO:0010788","Xref__c":"DOID:705"},{"URL__c":"https://www.omim.org/entry/535000","Source__c":"C0917796; MONDO:0010788; ORPHA:104","Xref__c":"OMIM:535000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=182973","Source__c":"C0917796","Xref__c":"MEDGEN:182973"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=58610003","Source__c":"C0917796; MONDO:0010788","Xref__c":"58610003"},{"URL__c":"https://www.orpha.net/en/disease/detail/104","Source__c":"C0917796; MONDO:0010788; ORPHA:104","Xref__c":"ORPHA:104"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C029242","Source__c":"C0917796; MONDO:0010788","Xref__c":"D029242"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84808","Source__c":"C0917796; MONDO:0010788","Xref__c":"C84808"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010788","Source__c":"GARD:0006870","Xref__c":"MONDO:0010788"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001112","Source__c":"C0917796","Xref__c":"HP:0001112"},{"URL__c":"https://medlineplus.gov/genetics/condition/leber-hereditary-optic-neuropathy","Source__c":"GARD:0006870","Xref__c":"https://medlineplus.gov/genetics/condition/leber-hereditary-optic-neuropathy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MT-CYB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-cyb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ATP6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-atp6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ND4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-nd4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ND4L","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-nd4l","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ND5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-nd5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ND1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-nd1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ND6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-nd6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ND2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-CO3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding a limb in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002174","HPO_Name__c":"Postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200125","HPO_Name__c":"Mitochondrial respiratory chain defects","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Swelling (edema) of the retinal nerve fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020120","HPO_Name__c":"Retinal nerve fiber edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000649","HPO_Synonym__c":"Abnormal vision evoked potentials; Abnormal visual evoked potential; Abnormal visual evoked responses; Abnormal visual-evoked potentials; VEP abnormalities","HPO_Name__c":"Abnormality of visual evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012841","HPO_Synonym__c":"Tortuous retinal vessels","HPO_Name__c":"Retinal vascular tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000576","HPO_Name__c":"Centrocecal scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032036","HPO_Synonym__c":"Abnormal contrast sensitivity","HPO_Name__c":"Reduced contrast sensitivity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Localized, irregular dilatation of small tortuous intraretinal blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007763","HPO_Name__c":"Retinal telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007924","HPO_Synonym__c":"Slow decrease in sharpness of vision; Subacute deterioration of visual acuity","HPO_Name__c":"Slow decrease in visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004309","HPO_Synonym__c":"Pre-excitation syndrome; Preexcitation; Ventricular pre-excitation","HPO_Name__c":"Ventricular preexcitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["leber hereditary optic atrophy"," leber hereditary optic neuropathy"," leber optic atrophy features"," leber optic degeneration"," leber's disease"," leber's hereditary optic neuropathy"," leber's optic atrophy"," lhon"," lhon - leber hereditary optic neuropathy"," lhon - leber's hereditary optic neuropathy"," optic atrophy, hereditary, leber"],"spanishId":13049,"spanishName":"neuropatia-optica-hereditaria-de-leber"}