Reticular Pseudodrusen in XXXX .

@entity1 @entity8111 @entity20831 @entity2363 @entity1020
PURPOSE: To investigate the association of @entity2363 ( @entity2363 ) with @entity20831 ( @entity20831 ). DESIGN: Prospective, monocenter, cross-sectional case series. SUBJECTS: Sixteen @entity1 of 4 unrelated families with @entity20831 caused by mutations in @entity8111 . METHODS: 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). MAIN OUTCOME MEASURES: Prevalence, topographic distribution, and phenotype of @entity2363 . RESULTS: Mean age of the investigated @entity1 was 56.8 years (range, 23-78 years). @entity2363 were identified frequently in @entity20831 @entity1 in the sixth decade of life (5 of 7 [71%]) and were absent in younger (n = 3) or older (n = 6) @entity1 . They were most abundant in the superior quadrant and spared the foveal region. @entity2363 appeared as yellowish round to oval (dot subtype; n = 5) or confluent, wriggled (ribbon subtype; n = 3) lesions, sometimes forming irregular networks. @entity2363 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. CONCLUSIONS: @entity2363 are a frequent finding in @entity1 with @entity20831 . Although @entity20831 @entity1 with @entity2363 are younger, distribution and phenotype of @entity2363 are similar to those observed in @entity1 with age-related @entity1020 . The association of @entity2363 with @entity20831 implicates a role of Bruch's membrane, the Bruch's membrane-retinal pigment epithelium interface, or both in the pathogenesis of @entity2363 .
