Stargardt disease type 1 is the most common of the juvenile-onset macular dystrophies. It shows a variable course with numerous disease-causing sequence variants.
Chromosome location: 1p22.1
Gene affected: ABCA4 (ATP binding cassette subfamily A member 4)
The gene product is a retina-specific ABC transporter that is expressed exclusively in retina photoreceptor cells.
Inheritance: autosomal recessive
Disease onset: juvenile onset (from childhood to early adulthood)
Clinical features:
(1) atrophic macular lesions
(2) variable loss of best-corrected visual acuity
(3) dyschromatopsia
(4) central scotomata
(5) yellow-white flecks at the level of the retinal pigment epithelium at the posterior pole
The disease can be monitored over time using:
(1) microperimetry.
(2) progressive decrease in fundus autofluorescence
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