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Adult-onset foveomacular vitelliform dystrophy (AFVD) phenotype was first described by Gass who initially termed it peculiar foveomacular dystrophy. 1 Later it was classified as one of the groups of pattern dystrophy. 2 AFVD is usually diagnosed after the age of 30 years and often over the age of 50 years. 3-6 Typically, patients show symmetric, yellowish, sub-retinal foveal deposits, measuring between one-third to one disc in diameter. The deposits are composed of extracellular photoreceptor outer segment debris, pigment and lipofuscin-laden retinal pigment epithelium (RPE) and macrophages. 2 4-7 Drusen may also be present in AFVD. 1
AFVD can be transmitted as an autosomal dominant trait and potentially as an autosomal recessive trait in association with mutations in the genes for peripherin/RDS (PRPH2), BEST1, IMPG1 or IMPG2. 8-11 Yet, the majority of AFVD cases do not carry mutations in these genes. The phenotype may also be associated with the HTRA1 risk single-nucleotide polymorphism (SNP) for age-related macular degeneration (AMD). 12-15
AFVD is a progressive condition which may lead to substantial visual loss secondary to atrophy of the photoreceptors and RPE, or due to the development of choroidal neovascularisation (CNV). 4 5 16-18 Optical coherence tomography (OCT), and particularly, spectral domain OCT (SD-OCT), provide important insights into AFVD. It facilitates confirmation of the sub-retinal location of vitelliform lesions, and morphometric studies of the lesions, their progression, and accompanying findings in the retina and RPE. 17 19-24
Diagnosis of acquired vitelliform lesions in the retina clinic is common. Yet, limited data are available on the progression rate of AFVD in terms of visual acuity, and on its association with lesion progression and genetic background. Specifically, visual and lesion progression were not characterised in sporadic AFVD cases with confirmed lack of mutations in the genes previously associated with this phenotype. 4 17 To address this limitation, we report the natural course of visual acuity and lesion morphology in genetically characterised patients with AFVD.
Methods
A consecutive series of 95 eyes of 51 patients clinically diagnosed with AFVD by retina specialists (EA, IC and EB) were included in the study. All patients were treated and followed in the retina service of the Department of Ophthalmology at the Hadassah-Hebrew University Medical Center in Jerusalem, Israel, between January 2009 and July...