Stargardt Disease
- Autosomal recessive inherited retinal dystrophy
- ABCA4 gene mutations
Main Features
- Bilateral central vision loss
- Yellow pisiform flecks in posterior pole 70%
- Early cases can mimic Batten Disease
- Late cases can mimic Pattern dystrophy
Imaging Features
OCT
- Outer Retinal atrophy in the macula
photo from Matthew C. Weed, AAPOS workshop 2025
Fundus Autofluorescence
- Foveal hypofluorescene
- Ring of hyperfluorescense representing deposits of lipofucin
- Sparing of pepapillary area
photos from Matthew C. Weed, AAPOS workshop 2025
Fundoscopy
- Blunted foveal reflex
photo from Matthew C. Weed, AAPOS workshop 2025