{"Name":"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies","DiseaseID__c":"GARD:0017640","id":17640,"encodedName":"retinal-dystrophy-with-inner-retinal-dysfunction-and-ganglion-cell-anomalies","IsDeleted":false,"Disease_Name_Full__c":"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies","Xref_IDs__c":"C168587; C4015146; MEDGEN:863583; MONDO:0014483; OMIM:616079; ORPHA:397758","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:397758","Disease_Description__c":"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.","GARD_Name__c":"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies","GARD_Synonym__c":"retinal dystrophy with inner nuclear layer and ganglion cell anomalies; retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities","Curated_Disease_Description_Source__c":"ORPHA:397758","Curated_Disease_Description__c":"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:397758","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014483","ORPHANET_ID__c":"ORPHA:397758","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia retiniana con disfunción retiniana interna y anomalías de las células ganglionares","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distrofia retiniana con disfunción retiniana interna y anomalías de las células ganglionares","Spanish_GARD_Synonym__c":"distrofia retiniana con anomalías de la capa nuclear interna y de las células ganglionares","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":"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.","Curated_Disease_Description_Source__c":"ORPHA:397758","GARD_Synonym__c":"retinal dystrophy with inner nuclear layer and ganglion cell anomalies; retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities","Name":"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Retina International","Website__c":"https://retina-international.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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:397758"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/616079","Source__c":"C4015146; MONDO:0014483; ORPHA:397758","Xref__c":"OMIM:616079"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863583","Source__c":"C4015146","Xref__c":"MEDGEN:863583"},{"URL__c":"https://www.orpha.net/en/disease/detail/397758","Source__c":"C4015146; MONDO:0014483","Xref__c":"ORPHA:397758"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015146","Source__c":"C4015146","Xref__c":"C4015146"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014483","Source__c":"GARD:0017640","Xref__c":"MONDO:0014483"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C168587","Source__c":"C4015146","Xref__c":"C168587"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ITM2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itm2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616079","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616079","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:616079","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:616079","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"OMIM:616079","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616079","Feature__r":{"HPO_Description__c":"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000556","HPO_Synonym__c":"Breakdown of light-sensitive cells in back of eye","HPO_Name__c":"Retinal dystrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["retinal dystrophy with inner nuclear layer and ganglion cell anomalies"," retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities"]}