{"Name":"Cone dystrophy with supernormal rod response","DiseaseID__c":"GARD:0010649","id":10649,"encodedName":"cone-dystrophy-with-supernormal-rod-response","IsDeleted":false,"Disease_Name_Full__c":"Cone dystrophy with supernormal rod response","Xref_IDs__c":"719455002; C1835897; C192089; C563678; DOID:0081022; MEDGEN:332081; MONDO:0012475; OMIM:610356; ORPHA:209932","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012475","Disease_Description__c":"Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.","GARD_Name__c":"Cone dystrophy with supernormal rod response","GARD_Synonym__c":"cdsrr; cone dystrophy with supernormal rod electroretinogram; cone dystrophy with supernormal rod erg; cone dystrophy with supernormal rod responses; cone dystrophy with supernormal scotopic electroretinogram; retinal cone dystrophy type 3b","Curated_Disease_Description_Source__c":"MONDO:0012475","Curated_Disease_Description__c":"Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:209932","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012475","ORPHANET_ID__c":"ORPHA:209932","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia de conos con respuesta supranormal de bastones","Spanish_Description_Source__c":"ORPHA:209932","Spanish_Description__c":"Es una retinopatía hereditaria de inicio en la primera o segunda décadas de vida y caracterizada por una escasa agudeza visual (debido al escotoma central), fotofobia, discromatopsia grave y, ocasionalmente, nistagmo. Por lo general, la ceguera nocturna se desarrolla más tarde en el curso de la enfermedad; sin embargo, puede ser evidente desde la infancia. Una característica distintiva de esta retinopatía es la disminución y el retraso en la respuesta de adaptación a la oscuridad tras destellos tenues en los registros electrorretinográficos, que contrasta con la elevada respuesta de onda b en los niveles más altos de estimulación.","Spanish_Disease_Name__c":"distrofia de conos con respuesta supranormal de bastones","Spanish_GARD_Synonym__c":"distrofia de conos con respuesta al electrorretinograma escotópico supranormal; distrofia de conos con respuesta supranormal de los bastones al electrorretinograma; distrofia de conos con respuesta supranormal de los bastones al erg","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":"Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.","Curated_Disease_Description_Source__c":"MONDO:0012475","GARD_Synonym__c":"cdsrr; cone dystrophy with supernormal rod electroretinogram; cone dystrophy with supernormal rod erg; cone dystrophy with supernormal rod responses; cone dystrophy with supernormal scotopic electroretinogram; retinal cone dystrophy type 3b","Name":"Cone dystrophy with supernormal rod response","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:209932"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:209932"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:209932"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1835897"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010649","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/610356","Source__c":"C1835897; MONDO:0012475; ORPHA:209932","Xref__c":"OMIM:610356"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563678","Source__c":"MONDO:0012475","Xref__c":"C563678"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332081","Source__c":"C1835897","Xref__c":"MEDGEN:332081"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719455002","Source__c":"C1835897; MONDO:0012475","Xref__c":"719455002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081022","Source__c":"MONDO:0012475","Xref__c":"DOID:0081022"},{"URL__c":"https://www.orpha.net/en/disease/detail/209932","Source__c":"C1835897; MONDO:0012475; ORPHA:209932","Xref__c":"ORPHA:209932"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835897","Source__c":"C1835897","Xref__c":"C1835897"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C192089","Source__c":"C1835897","Xref__c":"C192089"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012475","Source__c":"GARD:0010649","Xref__c":"MONDO:0012475"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNV2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610356","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000548","HPO_Synonym__c":"Cone rod dystrophy; Cone-rod retinal dystrophy","HPO_Name__c":"Cone/cone-rod dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610356","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:610356","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610356","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610356","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:610356","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610356","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610356","Feature__r":{"HPO_Description__c":"A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000575","HPO_Name__c":"Scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610356","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007401","HPO_Name__c":"Macular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610356","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["cdsrr"," cone dystrophy with supernormal rod electroretinogram"," cone dystrophy with supernormal rod erg"," cone dystrophy with supernormal rod responses"," cone dystrophy with supernormal scotopic electroretinogram"," retinal cone dystrophy type 3b"]}