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Concept information

Preferred term

Stargardt Disease  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Synonym(s)

  • Fundus Flavimaculatus
  • Stargardt Macular Degeneration

In other languages

URI

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

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RDF/XML TURTLE JSON-LD Created 7/8/19, last modified 4/29/19