{"orpha":99179,"name":"Kandori fleck retina","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99179/","orphanet_url":"https://www.orpha.net/en/disease/detail/99179","names":{"fr":{"name":"Dystrophie de Kandori","definition":"La dystrophie de Kandori est une dystrophie génétique rétinienne rare caractérisée par des lésions irrégulières, bien définies, de taille variable, de coloration jaunâtre à blanche, situées surtout dans la région équatoriale nasale de la rétine. Elles ont tendance à confluer et ne sont pas associées à des anomalies vasculaires ou du nerf optique. Elles se manifestent fréquemment par une cécité nocturne légère et stationnaire."},"de":{"name":"Gefleckte Retina nach Kandori","definition":"Kandoris gefleckte Retina ist eine seltene, genetisch bedingte Netzhautdystrophie, die durch unregelmäßige, scharf begrenzte, gelblich-weiße Läsionen variabler Größe gekennzeichnet ist, die hauptsächlich in der nasal-äquatorialen Region der Netzhaut verteilt sind und eine Tendenz zum Zusammenfließen zeigen. Die Störung manifestiert sich häufig als milde und stationäre Nachtblindheit. Gefäß- oder Sehnervenanomalien sind nicht assoziiert."},"es":{"name":"Retina moteada de Kandori","definition":"La retina moteada de Kandori es una distrofia retiniana genética poco frecuente que se caracteriza por lesiones irregulares, claramente definidas, de color blanco-amarillento y tamaño variable que se distribuyen principalmente en la región ecuatorial de la retina nasal, con tendencia a la confluencia y que no están asociadas con ninguna anomalía vascular ni del nervio óptico. Con frecuencia se manifiestan con ceguera nocturna leve y estacionaria."},"it":{"name":"Retina a chiazze, tipo Kandori","definition":"La retina a chiazze tipo Kandori è una distrofia retinica genetica rara, caratterizzata dalla presenza di lesioni irregolari, nettamente delimitate, di colore bianco-giallastro e di dimensioni variabili, distribuite soprattutto nella regione nasale equatoriale della retina, che tendono a convergere; le lesioni non si associano ad anomalie vascolari o del nervo ottico. Spesso esordiscono con cecità notturna lieve e stazionaria."},"nl":{"name":"Fleck retina van Kandori","definition":"Fleck retina van Kandori is een zeldzame, genetische dystrofie van het netvlies en wordt gekarakteriseerd door onregelmatige, scherp afgelijnde, gelig-witte letsels met variabele omvang die vooral verdeeld zijn in het nasaal equatoriaal deel van het netvlies en een neiging vertonen om samen te vloeien, en die niet geassocieerd zijn met enige afwijkingen van de bloedvaten of de gezichtszenuw. Meestal manifesteren ze zich als milde en stationaire nachtblindheid."},"pt":{"name":"Retina mosqueada de Kandori"},"pl":{"name":"plamkowata siatkówka Kandori"},"cs":{"name":"Kandoriho skvrnitá sítnice"},"uk":{"name":"Сітківка з плямами Кандори","definition":"Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness."},"zh":{"name":"Kandori斑点样视网膜","definition":"Kandori斑点视网膜是一种罕见的遗传性视网膜营养不良疾病，其特征是不规则、界限清晰的大小不一的黄白色病变，主要分布在视网膜的鼻侧水平区域，有融合趋势并与任何血管或视神经异常无关。患者常表现为轻度的静止性夜盲。"},"tr":{"name":"Kandori benekli retina"}},"xrefs":[{"source":"OMIM","code":"228990","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":"697904956"},{"source":"MONDO","code":"0009236","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562701","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271257","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716367,"name":"Rare isolated non-progressive generalized retinal disorder","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":null}