title: Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.
abstract: Adult-onset foveomacular vitelliform dystrophy (AFVD) was first described by Gass four decades ago. AFVD is characterized by subretinal vitelliform macular lesions and is usually diagnosed after the age of 40. The lesions gradually increase and then decrease in size over the years, leaving an area of atrophic outer retina and retinal pigment epithelium. This process is accompanied by a loss of visual acuity. Vitelliform lesions are hyperautofluorescent and initially have a dome-shaped appearance on optical coherence tomography. The electro-oculogram and full-field electroretinogram are typically normal, indicating localized retinal pathology. Phenocopies are also associated with other ocular disorders, such as vitreomacular traction, age-related macular degeneration, pseudodrusen, and central serous chorioretinopathy. A minority of AFVD patients have a mutation in the PRPH2, BEST1, IMPG1, or IMPG2 genes. A single-nucleotide polymorphism in the HTRA1 gene has also been associated with this phenotype. Accordingly, the phenotype can arise from alterations in the photoreceptors, retinal pigment epithelium, and/or interphotoreceptor matrix depending on the underlying gene defect. Excess photoreceptor outer segment production and/or impaired outer segment uptake due to impaired phagocytosis are likely underlying mechanisms. At present, no cure is available for AFVD. Thus, the current challenges in the field include identifying the underlying cause in the majority of AFVD cases and the development of effective therapeutic approaches.
authors: Department of Ophthalmology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel. Electronic address: chowers@hadassah.org.il.
authors: Itay
authors: I
authors: Chowers
authors: Department of Ophthalmology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
authors: Liran
authors: L
authors: Tiosano
authors: INSERM, U968, Paris, F-75012, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris, F-75012, France; CNRS, UMR_7210, Paris, F-75012, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU ViewMaintain, INSERM-DHOS CIC 1423, Paris, F-75012, France.
authors: Isabelle
authors: I
authors: Audo
authors: Department of Ophthalmology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
authors: Michelle
authors: M
authors: Grunin
authors: Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.
authors: Camiel J F
authors: CJ
authors: Boon
mesh_terms: D000328:Adult; D017668:Age of Onset; D003937:Diagnosis, Differential; D004596:Electroretinography; D020022:Genetic Predisposition to Disease; D006801:Humans; D010587:Phagocytosis / Q000502:physiology; D020641:Polymorphism, Single Nucleotide; D012160:Retina / Q000473:pathology; D055213:Retinal Pigment Epithelium / Q000473:pathology; D014792:Visual Acuity / Q000502:physiology; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
keywords: Adult-onset foveomacular vitelliform dystrophy; Pattern dystrophy; Vitelliform lesion