{"Name":"Achromatopsia 6","DiseaseID__c":"GARD:0010648","id":10648,"encodedName":"achromatopsia-6","IsDeleted":false,"Disease_Name_Full__c":"Achromatopsia 6","Xref_IDs__c":"C566483; DOID:0081025; MONDO:0012398; OMIM:610024","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":"OMIM:610024","Disease_Description__c":"A number sign (#) is used with this entry because of evidence that retinal cone dystrophy with supernormal rod electroretinogram (RCD3A) can be caused by mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H; {601190}) on chromosome 12p13. In addition, achromatopsia-6 (ACHM6) can be caused by homozygous mutation in PDE6H.\\n\\nAnother form of cone dystrophy with supernormal rod electroretinogram (RCD3B; {610356}) is caused by mutation in the KCNV2 gene ({607604}).","GARD_Name__c":"Achromatopsia 6","GARD_Synonym__c":"achm6; rcd3a; retinal cone dystrophy 3a; retinal cone dystrophy type 3a","Curated_Disease_Description_Source__c":"MEDGEN:C1864900","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:610024","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012398","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:C1864900","GARD_Synonym__c":"achm6; rcd3a; retinal cone dystrophy 3a; retinal cone dystrophy type 3a","Name":"Achromatopsia 6","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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1864900"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010648","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1418","Source__c":"Gene Review","Xref__c":"NBK1418"},{"URL__c":"https://www.omim.org/entry/610024","Source__c":"MONDO:0012398","Xref__c":"OMIM:610024"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566483","Source__c":"MONDO:0012398","Xref__c":"C566483"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081025","Source__c":"MONDO:0012398","Xref__c":"DOID:0081025"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012398","Source__c":"GARD:0010648","Xref__c":"MONDO:0012398"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PDE6H","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pde6h","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610024","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030473","HPO_Synonym__c":"Abnormal light adapted flicker electroretinogram; Abnormal light-adapted 30Hz flicker electroretinogram; Abnormal light-adapted 30Hz flicker ERG; Abnormal light-adapted flicker ERG","HPO_Name__c":"Abnormal light-adapted flicker electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610024","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:610024","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"}},{"Provided_By__c":"OMIM:610024","Feature__r":{"HPO_Description__c":"Inherited progressive cone degeneration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008020","HPO_Synonym__c":"Progressive cone degeneration; Progressive cone dystrophy","HPO_Name__c":"Cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610024","HPO_Frequency__c":"Frequent (30-79%)","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:610024","HPO_Frequency__c":"Very frequent (80-99%)","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:610024","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"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal","Neuro-Ophthalmology"]},"synonyms":["achm6"," rcd3a"," retinal cone dystrophy 3a"," retinal cone dystrophy type 3a"]}