{"Name":"Bothnia retinal dystrophy","DiseaseID__c":"GARD:0016734","id":16734,"encodedName":"bothnia-retinal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Bothnia retinal dystrophy","Xref_IDs__c":"715647007; C1843816; C564392; DOID:0050683; MEDGEN:334499; MONDO:0011838; OMIM:607475; ORPHA:85128","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011838","Disease_Description__c":"Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.","GARD_Name__c":"Bothnia retinal dystrophy","GARD_Synonym__c":"vasterbotten dystrophy; västerbotten dystrophy","Curated_Disease_Description_Source__c":"ORPHA:85128","Curated_Disease_Description__c":"Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85128","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011838","ORPHANET_ID__c":"ORPHA:85128","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia retiniana de bothnia","Spanish_Description_Source__c":"ORPHA:85128","Spanish_Description__c":"Es una forma poco frecuente de distrofia retiniana que se observa principalmente en el norte de Suecia, presentándose en la infancia temprana con ceguera nocturna y maculopatía progresiva junto con disminución de la agudeza visual, que conduce, finalmente, a ceguera en la edad adulta. También se observa degeneración retiniana, sin formación patente de espículas óseas, acompañada de afectación del campo visual y presencia típica de retinitis punctata albescens en el polo posterior.","Spanish_Disease_Name__c":"distrofia retiniana de bothnia","Spanish_GARD_Synonym__c":"distrofia de västerbotten","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":"Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.","Curated_Disease_Description_Source__c":"ORPHA:85128","GARD_Synonym__c":"vasterbotten dystrophy; västerbotten dystrophy","Name":"Bothnia retinal dystrophy","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:85128"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1417","Source__c":"Gene Review","Xref__c":"NBK1417"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843816","Source__c":"C1843816","Xref__c":"C1843816"},{"URL__c":"https://www.omim.org/entry/607475","Source__c":"C1843816; MONDO:0011838; ORPHA:85128","Xref__c":"OMIM:607475"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050683","Source__c":"MONDO:0011838","Xref__c":"DOID:0050683"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564392","Source__c":"MONDO:0011838","Xref__c":"C564392"},{"URL__c":"https://www.orpha.net/en/disease/detail/85128","Source__c":"C1843816; MONDO:0011838; ORPHA:85128","Xref__c":"ORPHA:85128"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715647007","Source__c":"C1843816; MONDO:0011838","Xref__c":"715647007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334499","Source__c":"C1843816","Xref__c":"MEDGEN:334499"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011838","Source__c":"GARD:0016734","Xref__c":"MONDO:0011838"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RLBP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An electroretinographic anomaly detected by dark-adapted full-field ERG. The dark adapted ERG targets rod-pathway function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030469","HPO_Name__c":"Abnormal dark-adapted electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000546","HPO_Synonym__c":"Retina degeneration","HPO_Name__c":"Retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","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":"ORPHA:85128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001129","HPO_Synonym__c":"Large central loss of field of vision","HPO_Name__c":"Large central visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030618","HPO_Name__c":"Increased OCT-measured foveal thickness","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:85128","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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007722","HPO_Name__c":"Retinal pigment epithelial atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Very frequent (80-99%)","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:85128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the retina of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032118","HPO_Name__c":"Retinitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Very frequent (80-99%)","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:85128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000608","HPO_Name__c":"Macular degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001123","HPO_Synonym__c":"Partial loss of field of vision; Visual field defects","HPO_Name__c":"Visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000493","HPO_Synonym__c":"Abnormality of the fovea","HPO_Name__c":"Abnormal foveal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000539","HPO_Name__c":"Abnormality of refraction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An annular field defect centered on fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030529","HPO_Synonym__c":"Annular scotoma","HPO_Name__c":"Ring scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007814","HPO_Synonym__c":"Focal hypopigmentation of the retinal pigment epithelium; Retinal pigment epithelium irregularity; RPE irregularity; RPE mottling; Salt and pepper retinal pigmentation; Salt and pepper retinopathy","HPO_Name__c":"Retinal pigment epithelial mottling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000610","HPO_Synonym__c":"Abnormality of the choroid","HPO_Name__c":"Abnormal choroid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007984","HPO_Synonym__c":"Electronegative ERG; Electroretinogram: reduced b-wave amplitude; Reduced amplitude of dark-adapted bright flash electroretinogram b-wave; Reduced electroretinogram rod b-wave; Reduced ERG amplitude of b-wave","HPO_Name__c":"ERG: Reduced dark-adapted b-wave amplitude","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030528","HPO_Name__c":"Paracentral scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030474","HPO_Name__c":"Undetectable dark-adapted electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Occasional (5-29%)","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:85128","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007737","HPO_Synonym__c":"Bone corpuscle fundus pigmentation; Bone spicule pigmentation of the retina; Fundus with peripheral bony spicules; Retinal bone corpuscle pigmentation; Retinal pigmented bone spicules","HPO_Name__c":"Spicular pigmentation of the retina","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85128","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["vasterbotten dystrophy"," västerbotten dystrophy"]}