====== 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|Batten Disease]] * Late cases can mimic Pattern dystrophy ===== Imaging Features ===== ==== OCT ==== * Outer Retinal atrophy in the macula {{::stargardt_dz_oct.png|}} photo from Matthew C. Weed, AAPOS workshop 2025 ==== Fundus Autofluorescence ==== * Foveal hypofluorescene * Ring of hyperfluorescense representing deposits of lipofucin * Sparing of pepapillary area {{::stargardt_dz_fundus_autofl1.png|}}\\ {{::stargardt_dz_fundus_autofl2.png|}}\\ photos from Matthew C. Weed, AAPOS workshop 2025 ==== Fundoscopy ==== * Blunted foveal reflex {{::stargardt_dz_fundus.png|}}\\ photo from Matthew C. Weed, AAPOS workshop 2025