273 POSTER Candidate tumor suppessor gene DLEC1 on 3p21.3 is hypermethylated in hepatocellular carcinoma

Abstract

To investigate the association of reticular pseudodrusen (RPD) with Sorsby fundus dystrophy (SFD).Prospective, monocenter, cross-sectional case series.Sixteen patients of 4 unrelated families with SFD caused by mutations in TIMP3.All subjects underwent multimodal imaging including near-infrared (NIR) reflectance and fundus autofluorescence with a confocal scanning laser ophthalmoscope and spectral-domain optical coherence tomography (SD OCT).Prevalence, topographic distribution, and phenotype of RPD.Mean age of the investigated patients was 56.8 years (range, 23–78 years). Reticular pseudodrusen were identified frequently in SFD patients in the sixth decade of life (5 of 7 [71%]) and were absent in younger (n = 3) or older (n = 6) patients. They were most abundant in the superior quadrant and spared the foveal region. Reticular pseudodrusen appeared as yellowish round to oval (dot subtype; n = 5) or confluent, wriggled (ribbon subtype; n = 3) lesions, sometimes forming irregular networks. Reticular pseudodrusen were hyporeflective on NIR reflectance and hypofluorescent on fundus autofluorescence imaging. They appeared as subretinal deposits on SD OCT imaging. Other lesions, such as peripheral pseudodrusen and soft drusen, were present less frequently.Reticular pseudodrusen are a frequent finding in patients with SFD. Although SFD patients with RPD are younger, distribution and phenotype of RPD are similar to those observed in patients with age-related macular degeneration. The association of RPD with SFD implicates a role of Bruch's membrane, the Bruch's membrane–retinal pigment epithelium interface, or both in the pathogenesis of RPD.