Search on: MFN=59247 
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Descriptor English:   Stargardt Disease 
Descriptor Spanish:   Enfermedad de Stargardt 
Descriptor Portuguese:   Doença de Stargardt 
Synonyms English:   Degeneration, Juvenile Macular
Degeneration, Stargardt Macular
Fundus Flavimaculatus
Juvenile Macular Degeneration
Juvenile Macular Degenerations
Macular Degeneration, Juvenile
Macular Degeneration, Stargardt
Macular Dystrophy With Flecks, Type 1
Stargardt Disease 1
Stargardt Macular Degeneration
Stargardt Macular Degenerations  
Tree Number:   C11.270.872
C11.768.585.439.339
C16.320.290.724
Definition English:   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. 
History Note English:   2020(2010) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   59247 
Unique Identifier:   D000080362 

Occurrence in VHL: 		 

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