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gptkbp:instanceOf
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gptkb:genetic_disorder
gptkb:retinal_disease
gptkb:inherited_macular_degeneration
|
|
gptkbp:affects
|
retina
macula
|
|
gptkbp:alsoKnownAs
|
gptkb:Stargardt_macular_dystrophy
juvenile macular degeneration
|
|
gptkbp:category
|
gptkb:eye
genetic eye disorder
|
|
gptkbp:complication
|
legal blindness
|
|
gptkbp:diagnosedBy
|
gptkb:optical_coherence_tomography
genetic testing
fluorescein angiography
fundus examination
|
|
gptkbp:firstDescribed
|
1909
|
|
gptkbp:frequency
|
rare
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ABCA4_gene
|
|
gptkbp:namedAfter
|
gptkb:Karl_Stargardt
|
|
gptkbp:onset
|
childhood
adolescence
|
|
gptkbp:prevalence
|
1 in 8,000 to 10,000 people
|
|
gptkbp:progression
|
variable
slow
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
central vision loss
difficulty seeing in low light
progressive vision loss
color vision changes
|
|
gptkbp:treatment
|
supportive care
no cure
low vision aids
|
|
gptkbp:bfsParent
|
gptkb:retinal_pigment_epithelium
gptkb:ATP-binding_cassette_(ABC)_transporter_family
gptkb:Lizzy_Meyers
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Stargardt disease
|