Background/aims 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.
Methods 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.
Results 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 (n=53 eyes) and showed correlation with BCVA reduction (Pearson's correlation coefficient=0.7, p=0.03).
Conclusions Sporadic AFVD is a slowly progressing macular degeneration of older people. It is associated with visual decline at the rate of approximately one ETDRS line during 3 years. Patients with sporadic AFVD are usually negative for the known mutations previously associated with this phenotype, and present at an age that is higher than described for monogenic AFVD.
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Contributors Design of the study (LT and IC); conduct of the study (LT, MG SH-L, EB, EA and IC); data collection (LT, MG and SHL); data management (LT, MG, EB, EA and IC); data analysis (LT, MG and IC); interpretation of data (LT, MG and IC); preparation of manuscript (LT, MG and IC); review of manuscript (LT, MG, SHL, EB, EA and IC); approval of manuscript (LT, MG, SHL, EB, EA and IC).
Funding The design and conduct of the study were supported by a grant from the Israeli Science Foundation (ISF, #1006/13).
Competing interests None declared.
Ethics approval Institutional Ethics Committee of Hadassah-Hebrew University Medical Center in Jerusalem, Israel.
Provenance and peer review Not commissioned; externally peer reviewed.
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