Natural course of adult-onset vitelliform lesions in eyes with and without comorbid subretinal drusenoid deposits

Abstract

Purpose Adult vitelliform lesions (AVL) are associated with age related macular degeneration (AMD) and subretinal drusenoid deposits (SRDD). We evaluated the natural course of AVL, assessing the influence of SRDD on disease progression, visual function and incidence of macular atrophy (MA) and choroidal neovascular membranes (CNVM). Methods A retrospective cohort study was conducted between January 2011 and March 2016. Demographic, clinical and imaging data from 26 consecutive AVL patients were analysed following case note review. Optical coherence tomography images were graded for SRDD and patients divided into those with/without SRDD. Outcomes included presenting/changes in best corrected visual acuity (BCVA) and incidence of MA/CNVM. Results Mean age was 78.6 ± 7.6 years. Mean follow-up was 51.5 ± 25.6 months. Twelve patients (46.2%) had SRDD at presentation with 3 more (11.5%) developing them. Subjects with SRDD were older (mean 81.7 ± 6.1 years vs 74.3 ± 7.6 years, p = 0.010). Mean presenting BCVA was worse in SRDD eyes (0.39 ± 0.31 logMAR vs 0.19 ± 0.18 logMAR, p = 0.017). Eight of 15 patients with SRDD (53.3%) developed incident MA or CNVM; higher than those with no SRDD (1/11, 9.1%; p = 0.036). Two patients (7.7%) developed full thickness macular holes.Conclusions Patients with AVL and SRDD likely represent an advanced pathological stage or phenotype with worse visual outcome and higher risk of MA/ CNVM. Possible overlap with AMD exists. Follow-up, counselling and provisions for early detection/treatment of complications should be made. Better classification including improved understanding of phenotypic and genetic variations with reference to comorbid diseases including AMD is required. Presence of SRDD in AVL offers a dichotomous classification, indicating risk of future MA/CNVM formation.

Advanced ImageJ Analysis in Degenerative Acquired Vitelliform Lesions Using Techniques Based on Optical Coherence Tomography

“…In our cohort, the AVLs were more frequent in patients in their seventh-eighth decade (79.25 ± 6.7 years). The age was similar to that reported in other studies 78.6 ± 6 years [18], as well as 72 years by Juliano J. et al [7]. A slight male predominance was observed in our cohort 69.2% vs. 30.8% (p = 0.019), similar to the previously reported one: 56.25% vs. 43.75% [7].…”

Acquired Vitelliform Lesions in the Setting of Nonexudative Age-Related Macular Degeneration

“…Elderly individuals with AVLs have an equal gender distribution and commonly present with good visual acuity (VA). 4 However, there is an inverse correlation of the relationship between visual acuity and the integrity of the ellipsoid zone. Disruption of the outer segments on SD OCT is responsible for VA loss in patients with AVLs.…”

Case Report of Adult-Onset Vitelliform Macular Dystrophy

“…Adult-onset vitelliform macular dystrophy is thought to be an inherited disorder, however, the precise function of genetics is not completely established 5 . Some studies propose an autosomal dominant inheritance with variable penetrance, yet, AVMD can occur without evidence of a familial inheritance pattern 2,6 .…”

“…Some studies propose an autosomal dominant inheritance with variable penetrance, yet, AVMD can occur without evidence of a familial inheritance pattern 2,6 . Other investigators believe that that AVMD may be degenerative with a genetic predisposition 5 . In addition, mutations in the genes encoding for VMD2 and RDS/peripherin have been found in a small population of patients who are diagnosed with AVMD 4,7 .…”

“…The long-term visual prognosis varies among individuals. For most adults, the clinical course is benign and progresses slowly, but for some individuals, especially older patients, central vision can be reduced due to macular atrophy and the development of a choroidal neovascular membrane 5 . Other possible complications of AVMD include full-thickness macular holes and retinal detachments6.…”