Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy

The British Journal of Ophthalmology
Liran TiosanoItay Chowers

Abstract

Adult-onset foveomacular vitelliform dystrophy (AFVD) is a relatively common macular degeneration which might lead to substantial visual loss. Our purpose was to describe the natural course of genetically evaluated patients with sporadic AFVD. A retrospective, consecutive, cohort study included 95 eyes of 51 patients. Mutations in genes previously associated with AFVD (PRPH2, BEST1, IMPG-1 and IMPG-2) were evaluated. Demographics, clinical characteristics, and spectral domain optical coherence tomography features were analysed. Main outcome measures were changes in the best corrected visual acuity (BCVA) and lesion morphology during the follow-up. The mean age (±SD) at diagnosis was 73.8±10.7 years. Mean (±SD) follow-up period was 30.4±16.3 months (range 0-44 months; median 25 months). All patients were genotyped negative for the evaluated mutations. Fifty-three of the eyes were followed for at least 36 months. At baseline these eyes had a mean BCVA (±SD) of 0.27±0.35 LogMAR, and at 36-months BCVA decreased to 0.38±0.35 (p=0.02). At baseline, 23 of these 53 eyes (43.4%) had the vitelliform stage, while only 10 eyes (18.9%) remained at this stage at 36 months (p=0.01). Ellipsoid zone alterations progressed during the follow-up (...Continue Reading

References

May 1, 1990·Australian and New Zealand Journal of Ophthalmology·A H GreavesS H Sarks
Jul 1, 1974·Archives of Neurology·N Christoff
Mar 5, 2003·American Journal of Ophthalmology·Nathanael BenhamouGisele Soubrane
Aug 23, 2005·The British Journal of Ophthalmology·P J FrancisM L Klein
Oct 21, 2006·Science·Andrew DewanJosephine Hoh
May 15, 2008·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·Claudio FurinoCarlo Sborgia
Jan 6, 2012·Retina·Luiz H LimaRichard F Spaide
Aug 16, 2012·Archives of Ophthalmology·Tareq JaouniItay Chowers
Feb 15, 2015·Progress in Retinal and Eye Research·Itay ChowersCamiel J F Boon

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