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Concept information

Terme préférentiel

Stargardt Disease  

Type

  • mesh:Descriptor

Définition

  • A juvenile-onset macular dystrophy characterized by progressive loss of VISUAL ACUITY with normal acuity in peripheral VISUAL FIELDS. Other associated clinical features may include LIPOFUSCIN fundus autofluorescence, atrophy of the RETINAL PIGMENT EPITHELIUM, loss of color vision, PHOTOPHOBIA and PARACENTRAL SCOTOMA. Germline mutations in the ABCA4 gene have been identified in recessive and dominant diseases.

Concept générique

Synonyme(s)

  • Fundus Flavimaculatus
  • Stargardt Macular Degeneration

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-Q1BLJG31-M

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RDF/XML TURTLE JSON-LD Date de création 08/07/2019, dernière modification le 29/04/2019