{"orpha":85128,"name":"Bothnia retinal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Västerbotten dystrophy"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85128/","orphanet_url":"https://www.orpha.net/en/disease/detail/85128","names":{"fr":{"name":"Dystrophie rétinienne type Bothnie","synonyms":["Dystrophie rétinienne type Botnie","Dystrophie type Västerbotten"],"definition":"Forme rare de dystrophie rétinienne, observée principalement dans le nord de la Suède, se manifestant dans la petite enfance par une cécité nocturne et une maculopathie progressive accompagnée d'une baisse de l'acuité visuelle, conduisant à la cécité à l'âge adulte. On observe également une dégénérescence rétinienne, sans formation évidente de spicules osseux, accompagnée d'une altération du champ visuel et de la présence typique d'une rétinite ponctuée albescente dans le pôle postérieur."},"de":{"name":"Netzhautdystrophie Typ Bottnien","synonyms":["Västerbotten-Dystrophie"],"definition":"Die Bothnische Netzhautdystrophie ist eine seltene Form der Netzhautdystrophie, die vor allem in Nordschweden auftritt und in der frühen Kindheit mit Nachtblindheit und progressiver Makulopathie mit Abnahme der Sehschärfe einhergeht und im Erwachsenenalter zur Erblindung führt. Auch beobachtet wird eine retinale Degeneration ohne offensichtliche Bildung von Knochenspicula begleitet von Gesichtsfeldausfällen und dem typischen Auftreten einer Retinitis punctata albescens (s. dort) am hinteren Augenpol."},"es":{"name":"Distrofia retiniana de Bothnia","synonyms":["Distrofia de Västerbotten"],"definition":"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."},"it":{"name":"Distrofia retinica di Bothnia","synonyms":["Distrofia di Västerbotten"],"definition":"La distrofia retinica di Bothnia è una forma rara di distrofia della retina, osservata per lo più nel nord della Svezia, che esordisce nella prima infanzia con cecità notturna e maculopatia progressiva, associate ad una riduzione dell'acuità visiva, che esita nella cecità prima dell'età adulta. Altri segni clinici sono la degenerazione della retina, senza formazione di evidenti spicole ossee, associata ad anomalie del campo visivo e alla tipica presenza di retinite punctata albescens (si veda questo termine) nel polo posteriore."},"nl":{"name":"Retinale dystrofie, Bothnia-type","synonyms":["Västerbotten-dystrofie"],"definition":"Bothnia retinale dystrofie is een zeldzame vorm van retinale dystrofie die voornamelijk wordt waargenomen in Noord-Zweden en die zich presenteert in de vroege kindertijd met nachtblindheid en progressieve maculopathie met een vermindering van gezichtsscherpte, wat uiteindelijk leidt tot blindheid tegen de volwassenheid. Degeneratie van het netvlies, zonder duidelijke vorming van botfragmenten en vergezeld van aantasting van het gezichtsveld en de typische aanwezigheid van retinitis punctata albescens (zie deze term) in de achterpool, wordt ook opgemerkt."},"pt":{"name":"Retiniana tipo Bothnia, distrofia"},"pl":{"name":"Dystrofia siatkówki Bothnia","synonyms":["Dystrofia Västerbottena"]},"cs":{"name":"Botnická retinální dystrofie","synonyms":["Västerbottenova dystrofie"]},"uk":{"name":"Дистрофія сітківки, тип Ботнія","synonyms":["Дистрофія Вестерботтена"],"definition":"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."},"zh":{"name":"Bothnia视网膜营养不良","synonyms":["Västerbotten营养不良"]},"tr":{"name":"Bothnia retina distrofisi","synonyms":["Västerbotten distrofisi"]}},"xrefs":[{"source":"OMIM","code":"607475","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2110390212"},{"source":"MONDO","code":"0011838","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564392","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843816","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]},{"orpha":717317,"name":"Rare genetic isolated progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":716348,"name":"Rare isolated progressive predominantly chorioretinal disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"RLBP1","name":"retinaldehyde binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10102298[PMID]","hgnc":"10024","ensembl":"ENSG00000140522","omim":"180090","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10102298[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-04","source":"25429852 [PMID]_22551409[PMID]","terms":[{"hpo":"HP:0030469","label":"Abnormal dark-adapted electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030618","label":"Increased OCT-measured foveal thickness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030474","label":"Undetectable dark-adapted electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000493","label":"Abnormal foveal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032118","label":"Retinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007984","label":"Electronegative electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001129","label":"Large central visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030528","label":"Paracentral scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030529","label":"Ring scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007737","label":"Bone spicule pigmentation of the retina","frequency":"Excluded (0%)","criteria":null}]}}