{"Name":"Achromatopsia 3","DiseaseID__c":"GARD:0009650","id":9650,"encodedName":"achromatopsia-3","IsDeleted":false,"Disease_Name_Full__c":"Achromatopsia 3","Xref_IDs__c":"C1849792; DOID:0110008; MEDGEN:340413; MONDO:0009875; OMIM:262300","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009875","Disease_Description__c":"Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.","GARD_Name__c":"Achromatopsia 3","GARD_Synonym__c":"achm1; achm3; achromatopsia caused by mutation in cngb3; achromatopsia type 3; achromatopsia with myopia; cngb3 achromatopsia; rmch1; rod monochromacy 1; rod monochromatism 1; total colorblindness with myopia","Curated_Disease_Description_Source__c":"MEDGEN:C1849792","Curated_Disease_Description__c":"Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:262300","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009875","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":"Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.","Curated_Disease_Description_Source__c":"MEDGEN:C1849792","GARD_Synonym__c":"achm1; achm3; achromatopsia caused by mutation in cngb3; achromatopsia type 3; achromatopsia with myopia; cngb3 achromatopsia; rmch1; rod monochromacy 1; rod monochromatism 1; total colorblindness with myopia","Name":"Achromatopsia 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849792"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009650","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1418","Source__c":"Gene Review","Xref__c":"NBK1418"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849792","Source__c":"C1849792","Xref__c":"C1849792"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340413","Source__c":"C1849792","Xref__c":"MEDGEN:340413"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110008","Source__c":"MONDO:0009875","Xref__c":"DOID:0110008"},{"URL__c":"https://www.omim.org/entry/262300","Source__c":"C1849792; MONDO:0009875","Xref__c":"OMIM:262300"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009875","Source__c":"GARD:0009650","Xref__c":"MONDO:0009875"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CNGB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cngb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:262300","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:262300","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011516","HPO_Synonym__c":"Rod monochromacy; Rod monochromatism","HPO_Name__c":"Achromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030515","HPO_Synonym__c":"Moderate reduction in visual acuity; Moderate vision loss; Moderate visual impairment; Moderate visual loss","HPO_Name__c":"Moderately reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262300","Feature__r":{"HPO_Description__c":"Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007803","HPO_Synonym__c":"Complete achromatopsia","HPO_Name__c":"Monochromacy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262300","Feature__r":{"HPO_Description__c":"Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001141","HPO_Synonym__c":"Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision","HPO_Name__c":"Severely reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262300","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262300","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007811","HPO_Name__c":"Horizontal pendular nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262300","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007641","HPO_Synonym__c":"Color blindness","HPO_Name__c":"Dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:262300","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal","Neuro-Ophthalmology","Neuromuscular medicine"]},"synonyms":["achm1"," achm3"," achromatopsia caused by mutation in cngb3"," achromatopsia type 3"," achromatopsia with myopia"," cngb3 achromatopsia"," rmch1"," rod monochromacy 1"," rod monochromatism 1"," total colorblindness with myopia"]}