Preferred Label : Stargardt Disease;
MeSH 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.;
MeSH synonym : Fundus Flavimaculatus; Stargardt Macular Degeneration; Degeneration, Stargardt Macular; Macular Degeneration, Stargardt; Stargardt Macular Degenerations;
MeSH hyponym : Macular Dystrophy With Flecks, Type 1; Degeneration, Juvenile Macular; Juvenile Macular Degenerations; Macular Degeneration, Juvenile;
Origin ID : D000080362;
UMLS CUI : C0271093;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
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.
