- Concept UI
- M000612272
- Scope Note
- 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.
- Terms
-
Stargardt Disease
Preferred Term
Term UI
T842534
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Fundus Flavimaculatus
Term UI
T801321
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Stargardt Macular Degeneration
Term UI
T842533
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)