Acquired Vitelliform Detachment in Patients With Subretinal Drusenoid Deposits (Reticular Pseudodrusen)

Abstract

PURPOSE: To report a recently observed association of macular vitelliform detachment and subretinal drusenoid deposits (reticular pseudodrusen). METHODS: Clinical and multimodal imaging data of patients with acquired vitelliform lesions in association with subretinal drusenoid deposits were reviewed. Acquired vitelliform lesions were defined as subretinal accumulations of yellow material that developed in adulthood. Subretinal drusenoid deposits were diagnosed as being present if there were drusen-like accumulations that colocalized with aggregates of subretinal material as seen by multimodal imaging including spectral-domain optical coherence tomography, autofluorescence, and near-infrared imaging. RESULTS: Seven eyes of 6 patients with a mean age of 85 years, all of whom were white, were found to have vitelliform material in association with subretinal drusenoid deposits. The median visual acuity was 20/30. The vitelliform material was hyperautofluorescent and was in all eyes located in the subretinal space between the inner segment/outer segment junction and the retinal pigment epithelium. This material had the same color, autofluorescence, and optical coherence tomographic characteristics as the vitelliform material seen in association with cuticular drusen. CONCLUSION: Acquired vitelliform lesions can occur in association with subretinal drusenoid deposits. Subretinal drusenoid deposits might be mistaken for cuticular drusen because of their similar appearance in color fundus photography but can be easily distinguished with multimodal imaging because they lie above the retinal pigment epithelium. Subretinal drusenoid deposits may reflect abnormalities in the function of the retinal pigment epithelium and their presence may interfere with photoreceptor outer segment turnover, leading to an accumulation of vitelliform material.

Prevalence of reticular pseudodrusen in newly presenting adult onset foveomacular vitelliform dystrophy

“…Similarly, in the BMES, after adjusting for age, Joachim et al 8 demonstrated the 15-year cumulative incidence of RPD was twice as likely in females. In the cohort of six patients reported by Zweifel et al, 29 four individuals with AFVD and RPD were female but their series was not consecutive. Gliem et al 8 reported no difference in sex distribution in their study on the association between RPD and PXE.…”

“…There is, however, very limited literature available on the association of RPD and AFVD. To the best of our knowledge, Zweifel et al 29 were the only group that has reported the association other than in case reports. This was, however, a small study with seven eyes of six patients only, and did not report the prevalence of RPD within eyes presenting consecutively with AFVD.…”

“…More recently, a similar association between RPD and Sorsby fundus dystrophy has been reported. 28 Both RPD 29 and cuticular drusen 30,31 have previously been associated with vitelliform-type dystrophies. There is, however, very limited literature available on the association of RPD and AFVD.…”

Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature

“…Although SD-OCT provides more detail about the structure than time-domain OCT, SD-OCT has a limited ability to discriminate diseases that cause similar discrete yellowish-white dots, such as benign retinal flecks [36], Malattia Leventinese (Doyne honeycomb) retinal dystrophy (Zweifel et al IOVS 2011;52:ARVO E-Abstract 3703), and subretinal drusenoid deposits [44].…”

Multimodal Imaging of Nonneovascular Age-Related Macular Degeneration

“…These lesions are associated with a variety of retinal disorders, including AMD, central serous chorioretinopathy, Best disease, adult-onset foveomacular dystrophy, vitreomacular traction and epiretinal membrane formation, 94 and pseudoxanthoma elasticum. 6,[95][96][97][98] AVLs appear as a yellow round lesion on clinical examination and CFP and exhibit hyperautofluorescence with FAF. With OCT imaging these lesions display dome-shaped subretinal homogenous hyperreflectivity.…”