Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 10 of 20
Figure 2: Genetic test results of Patient #2
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 9 of 20
Image 7: Macula OCT of Patient #2 at 5-years-old Preserved inner and outer retinal layers with thickened and hyperreflective ELM present in both eyes. Image 8: Macula OCT of Patient #2 at 17-years-old Complete outer retinal atrophy across retina, with outer retinal hyperreflective flecks above the level of the
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 8 of 20
Image 6: Fundus photo/FAF of Patient #2 at 17-years-old, BCVA 20/150+ OD and OS Color photos: Macular pigmentary mottling of the maculae with a symmetric round appearance. Yellow fleck-like lesions present throughout both posterior poles. Fundus autofluorescence: Hypo autofluorescence of the maculae with surrounding hyper autofluorescent ring. Diffuse
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 7 of 20
Image 5: Fundus photo/FAF of Patient #2 at 5-years-old, BCVA 20/25+ OD and OS and completely asymptomatic Normal-appearing fundi with robust sheen from internal limiting membrane (ILM). Hypo autofluorescent foveae with surrounding early hyper autofluorescent ring. Symmetry between the eyes suggests
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 6 of 20
Figure 1: Genetic test results of Patient #1 Note: autosomal recessive Joubert syndrome is characterized by abnormal brain development that affects control of coordination and balance. Ocular features may include ocular motor apraxia, retinal dystrophy, retinal pigmentation abnormalities, and eye maldevelopment conditions (e.g. colobomas).8
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 5 of 20
Image 3: Macula OCT of Patient #1 at 8-years-old Complete outer retinal atrophy at the foveae, preservation of ellipsoid zone (EZ) aka photoreceptor integrity line (PIL) outside of foveae. Small outer retinal hyperreflective flecks present above the RPE. Image 4: Macula OCT of Patient #1 at 19-years-old
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 4 of 20
Image 2: Fundus photo/FAF of Patient #1 at 19-years-old, BCVA 20/400 OD and 20/300 OS Color photo (left): Pigmentary changes in the maculae and posterior poles with a generally symmetric appearance. Macular pigment mottling in the foveae of both eyes. Fundus autofluorescence (right):
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 3 of 20
Image 1: Fundus photo/FAF of Patient #1 at 8-years-old, BCVA 20/200 OD and OS Yellow fleck-like deposits surrounding maculae across posterior pole. Hyper autofluorescent fleck-like deposits throughout both posterior poles with background hyper autofluorescence. Hypo autofluorescent foveae with surrounding hyper autofluorescent ring.
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 2 of 20
Background Stargardt disease (STGD), inherited through an autosomal recessive pattern, is due to mutations in the ABCA4 gene.1Clinical features include worsening central vision and yellow-white autofluorescent flecks in the macula, usually within the first two decades of life.2,3Three siblings were previously described in Retina Revealed as having STGD based on their
Case #67: Evidence of ELM as a Biomarker for Stargardt Disease – Page 1 of 20
Evidence of ELM as a Biomarker for Stargardt Disease