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Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.
Prog Retin Eye Res 2015; 47:64-85PR

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+Show Affiliations

Department of Ophthalmology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel. Electronic address: chowers@hadassah.org.il.Department of Ophthalmology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.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.Department of Ophthalmology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

25681578

Citation

Chowers, Itay, et al. "Adult-onset Foveomacular Vitelliform Dystrophy: a Fresh Perspective." Progress in Retinal and Eye Research, vol. 47, 2015, pp. 64-85.
Chowers I, Tiosano L, Audo I, et al. Adult-onset foveomacular vitelliform dystrophy: A fresh perspective. Prog Retin Eye Res. 2015;47:64-85.
Chowers, I., Tiosano, L., Audo, I., Grunin, M., & Boon, C. J. (2015). Adult-onset foveomacular vitelliform dystrophy: A fresh perspective. Progress in Retinal and Eye Research, 47, pp. 64-85. doi:10.1016/j.preteyeres.2015.02.001.
Chowers I, et al. Adult-onset Foveomacular Vitelliform Dystrophy: a Fresh Perspective. Prog Retin Eye Res. 2015;47:64-85. PubMed PMID: 25681578.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adult-onset foveomacular vitelliform dystrophy: A fresh perspective. AU - Chowers,Itay, AU - Tiosano,Liran, AU - Audo,Isabelle, AU - Grunin,Michelle, AU - Boon,Camiel J F, Y1 - 2015/02/11/ PY - 2014/11/08/received PY - 2015/02/01/revised PY - 2015/02/04/accepted PY - 2015/2/15/entrez PY - 2015/2/15/pubmed PY - 2016/1/27/medline KW - Adult-onset foveomacular vitelliform dystrophy KW - Pattern dystrophy KW - Vitelliform lesion SP - 64 EP - 85 JF - Progress in retinal and eye research JO - Prog Retin Eye Res VL - 47 N2 - 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. SN - 1873-1635 UR - https://www.unboundmedicine.com/medline/citation/25681578/Adult_onset_foveomacular_vitelliform_dystrophy:_A_fresh_perspective_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1350-9462(15)00007-5 DB - PRIME DP - Unbound Medicine ER -