{"orpha":440727,"name":"Combined hamartoma of the retina and retinal pigment epithelium","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CHR-RPE","Combined hamartoma of the retina and RPE"],"definition":"A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440727/","orphanet_url":"https://www.orpha.net/en/disease/detail/440727","names":{"fr":{"name":"Hamartome combiné de l'épithélium pigmentaire et de la rétine","synonyms":["CHR-RPE"],"definition":"Tumeur bénigne rare de l'oeil caractérisée par la une gliose rétinienne, une prolifération, capillaire et de l'épithélium pigmentaire entraînant une désorganisation de la rétine et de l'épithélium pigmentaire rétinien. La lésion est le plus souvent unilatérale et se présente sous la forme d'une formation péripapillaire, mais elle peut également se développer dans la macula ou la périphérie rétinienne. Elle est parfois associée à une neurofibromatose de type 1 ou de type 2, au syndrome de carcinome basocellulaire névoïde ou au syndrome branchio-oculo-facial. Les patients peuvent être asymptomatiques ou présenter une perte progressive de la vision."},"de":{"name":"Kombiniertes Hamartom der Retina und des retinalen Pigmentepithels","synonyms":["CHR-RPE","Kombiniertes Hamartom der Retina und des RPE"],"definition":"Ein seltener gutartiger Augentumor, der durch das Vorhandensein von Gliazellen, Gefäßgewebe und Schichten von Pigmentepithelzellen gekennzeichnet ist, denen die Verteilung und Organisation der normalen Netzhaut und des retinalen Pigmentepithels fehlt. Die Läsion tritt meist einseitig als leicht erhöhte Gewebeverdichtung in peripapillärer Lage auf, kann aber auch in der Makula oder der Netzhautperipherie vorkommen. Manchmal ist sie mit Neurofibromatose Typ 1 oder 2, dem nevoiden Basalzellkarzinom-Syndrom oder dem branchio-okulo-fazialen Syndrom assoziiert. Die Patienten können asymptomatisch sein oder einen fortschreitenden Sehverlust aufweisen."},"es":{"name":"Hamartoma combinado de retina y epitelio pigmentario retiniano","synonyms":["HCR-EPR","Hamartoma combinado de retina y EPR"],"definition":"Es un tumor ocular benigno poco frecuente caracterizado por la presencia de células gliales, tejido vascular y láminas de células epiteliales pigmentarias que carecen de la distribución y organización de la retina y del epitelio pigmentario retiniano normal. La lesión aparece con mayor frecuencia de forma unilateral como una masa ligeramente elevada con localización peripapilar, aunque también puede ocurrir en la mácula o la periferia de la retina. En ocasiones está asociado a neurofibromatosis tipo 1 o 2, síndrome de carcinoma nevoide de células basales o síndrome branquio-óculo-facial. Los pacientes pueden permanecer asintomáticos o presentarse con una pérdida progresiva de la visión."},"it":{"name":"Amartoma combinato della retina e dell'epitelio retinico pigmentato","synonyms":["Amartoma combinato della retina e dell'EPR"],"definition":"Si tratta di un tumore benigno raro dell'occhio, caratterizzato dalla presenza di cellule gliali, tessuto vascolare e strati di cellule epiteliali pigmentate privi della distribuzione e dell'organizzazione della retina normale e dell'epitelio pigmentato della retina. In genere la lesione è monolaterale, e si manifesta sotto forma di una massa leggermente rialzata in sede peripapillare, ma può localizzarsi anche nella macula o nella periferia retinica. Talvolta si associa alla neurofibromatosi tipo 1 o 2, alla sindrome del carcinoma nevoide delle cellule basali o alla sindrome branchio-oculo-facciale. I pazienti possono essere asintomatici o presentare una progressiva perdita della vista."},"nl":{"name":"Gecombineerd hamartoom van retina en retinaal pigmentepitheel","synonyms":["Gecombineerd hamartoom van retina en RPE","CHR-RPE"],"definition":"Een zeldzame benigne tumor van oog, gekarakteriseerd door de aanwezigheid van gliacellen, vasculair weefsel, en lagen van pigmentepitheelcellen zonder de distributie en de organisatie van normaal netvlies en retinaal pigmentepitheel. De laesie wordt doorgaans unilateraal aangetroffen als een licht verheven massa in een peripapillaire locatie, maar kan voorkomen in macula of periferie van retina. Het is soms geassocieerd met neurofibromatose type 1 of 2, basaalcelnaevus-syndroom, of branchio-oculofaciaal syndroom. Patiënten kunnen asymptomatisch zijn of progressief verlies van gezichtsvermogen vertonen."},"pt":{"name":"Hamartoma combinado da retina e do epitélio pigmentado da retina"},"pl":{"name":"Hamartoma siatkówki i nabłonka barwnikowego siatkówki","synonyms":["Hamartoma siatkówki i RPE"]},"cs":{"name":"Kombinovaný hamartom sítnice a retinálního pigmentového epitelu","synonyms":["Kombinovaný hamartom sítnice a RPE"]},"uk":{"name":"Комбінована гамартома сітківки та пігментного епітелію сітківки","synonyms":["CHR-RPE","Поєднана гамартома сітківки та RPE"],"definition":"A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision."},"zh":{"name":"视网膜和视网膜色素上皮联合错构瘤","synonyms":["视网膜和RPE联合错构瘤"]},"tr":{"name":"Retina ve retina pigment epitelinin kombine hamartomu","synonyms":["CHR-RPE","Retina ve RPE'nin kombine hamartom"]}},"xrefs":[{"source":"ICD-10","code":"D31.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F36.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"900040783"},{"source":"MONDO","code":"0018607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862062","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":101950,"name":"Rare eye tumor","classifications":[189,202]},{"orpha":716432,"name":"Rare isolated progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":120.0,"area":"Worldwide","status":"Validated","source":"23960997[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23960997[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-07","source":"23162024[PMID]","terms":[{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012795","label":"Abnormality of the optic disc","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012841","label":"Retinal vascular tortuosity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007773","label":"Vitreoretinopathy","frequency":"Occasional (29-5%)","criteria":null}]}}