{"orpha":519398,"name":"Isolated foveal hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519398/","orphanet_url":"https://www.orpha.net/en/disease/detail/519398","names":{"fr":{"name":"Hypoplasie fovéale isolée","definition":"Maladie maculaire rare caractérisée principalement par une baisse de l'acuité visuelle d'un degré variable, un nystagmus saccadé ou pendulaire, et des anomalies oculaires typiques identifiées par imagerie. La maladie est généralement bilatérale. Dans de rares cas, le nystagmus n'est pas observé. Localement, la maladie se caractérise par une hypoplasie fovéale, l'absence de pigmentation fovéale et/ou de zone avasculaire fovéale, et la persistance des couches rétiniennes internes au niveau de la fovéa, en l'absence de pathologie oculaire ou systémique concomitante."},"de":{"name":"Foveahypoplasie, isolierte","definition":"Eine seltene Makulaerkrankung, die meist durch eine unterschiedlich ausgeprägte Verminderung der Sehschärfe, ruckartigen oder pendelnden Nystagmus und typische Augenbefunde bei der Bildgebung gekennzeichnet ist. Die Erkrankung tritt in der Regel beidseitig auf. Selten kann der Nystagmus ausbleiben. Lokal ist die Erkrankung durch eine unterentwickelte foveale Grube, das Fehlen einer fovealen Pigmentierung und/oder einer fovealen avaskulären Zone und das Fortbestehen innerer Netzhautschichten an der Fovea gekennzeichnet, sofern keine begleitende okuläre oder systemische Pathologie vorliegt."},"es":{"name":"Hipoplasia foveal aislada","definition":"Es un trastorno macular poco frecuente que se caracteriza principalmente por un grado variable de disminución de la agudeza visual, nistagmo pendular o espasmódico y hallazgos oculares típicos en las pruebas de imagen. La enfermedad suele ser bilateral. En raras ocasiones, el nistagmo puede estar ausente. A nivel local, la enfermedad se caracteriza por una fosa foveal infradesarrollada, ausencia de pigmentación foveal y/o zona foveal avascular y persistencia de capas retinianas internas en la fóvea, en ausencia de patología ocular o sistémica concomitante."},"it":{"name":"Ipoplasia isolata della fovea","definition":"Si tratta di una malattia rara della macula, caratterizzata prevalentemente da una riduzione di grado variabile dell'acuità visiva, nistagmo saccadico o pendolare, e segni oculari caratteristici alle immagini diagnostiche. In genere la malattia è bilaterale. In rari casi non si associa a nistagmo. Localmente la malattia è caratterizzata da ipoplasia della fovea, dall'assenza di pigmentazione e/o da un'area avascolare nella fovea, e dalla persistenza degli strati retinici interni della fovea, in assenza di altre malattie oculari o sistemiche."},"nl":{"name":"Geïsoleerde foveale hypoplasie","definition":"Een zeldzame aandoening van macula, meestal gekarakteriseerd door variabele gradaties van verminderde visus, ruk- of pendelnystagmus, en typische oculaire bevindingen bij beeldvorming. De ziekte is meestal bilateraal. In zeldzame gevallen kan nystagmus afwezig zijn. Lokaal wordt de ziekte gekenmerkt door onderontwikkelde fovea centralis, afwezigheid van foveale pigmentatie en/of foveale avasculaire zone, en persisterende binnenste retinale lagen aan fovea, zonder gecombineerde oculaire of systemische pathologie."},"pt":{"name":"Hipoplasia isolada da fóvea"},"pl":{"name":"Izolowana hipoplazja dołka środkowego siatkówki oka"},"cs":{"name":"Izolovaná foveální hypoplázie"},"uk":{"name":"Ізольована фовеальна гіпоплазія","definition":"A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology."},"zh":{"name":"孤立性中央凹发育不良","definition":"一种罕见的黄斑病变，多以不同程度的视力下降、眼球痉挛或摆动性眼球震颤为特征，影像学检查发现有典型的眼病。本病通常为双侧性。罕见的是，可以不存在眼球震颤。在局部，本病的特点是视网膜中央凹发育不全，无视网膜中央色素沉着和（或）视网膜中央血运区，视网膜内层一直存在，无伴随的眼部或全身病变。"},"tr":{"name":"İzole foveal hipoplazi"}},"xrefs":[{"source":"ICD-10","code":"H35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B75.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0034978","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565005","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850993","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717330,"name":"Rare genetic isolated non-progressive predominantly macular disorder","classifications":[156]},{"orpha":716419,"name":"Rare isolated non-progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}