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Multimodal analysis of the progression of Best vitelliform macular dystrophy

PURPOSE: To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease. METHODS: In this retrospective observational study performed b...

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Autores principales: Querques, Giuseppe, Zerbib, Jennyfer, Georges, Anouk, Massamba, Nathalie, Forte, Raimondo, Querques, Lea, Rozet, Jean-Michel, Kaplan, Josseline, Souied, Eric H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000718/
https://www.ncbi.nlm.nih.gov/pubmed/24791142
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author Querques, Giuseppe
Zerbib, Jennyfer
Georges, Anouk
Massamba, Nathalie
Forte, Raimondo
Querques, Lea
Rozet, Jean-Michel
Kaplan, Josseline
Souied, Eric H.
author_facet Querques, Giuseppe
Zerbib, Jennyfer
Georges, Anouk
Massamba, Nathalie
Forte, Raimondo
Querques, Lea
Rozet, Jean-Michel
Kaplan, Josseline
Souied, Eric H.
author_sort Querques, Giuseppe
collection PubMed
description PURPOSE: To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease. METHODS: In this retrospective observational study performed between January 2007 and December 2012, 21 patients (42 eyes) with Best VMD from eight families with the BEST1 mutation were included. Best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SDOCT) were evaluated at study entry and at last visit. RESULTS: The mean age of patients was 26.3±17.4 years. Seven new missense mutations in BEST1 were identified. Mean follow-up was 41.1±18.5 months. Mean BCVA was 0.34±0.34 LogMAR at study entry and 0.32±0.33 LogMAR at last follow-up visit (p = 0.2). The overall lesion area on FAF increased from 6.62±4.9 mm(2) to 7.34±6.1 mm(2) (p = 0.05). At study entry, on SD-OCT, photoreceptor inner segment ellipsoid portion (ellipsoid zone, EZ) was normal in 15 eyes, disrupted in 14 eyes, and absent in 13 eyes. In two eyes, EZ changed from normal to disrupted during follow-up. Three eyes of three patients showing pseudohypopyon lesions at study entry progressed to vitelliruptive lesions at the last follow-up visit. Three eyes of three patients showing vitelliruptive lesion at study entry reverted to pseudohypopyon lesion with overall enlargement of the lesion size. CONCLUSIONS: Multimodal analysis allowed documenting a continuous material accumulation and reabsorption in Best VMD progression. Blue FAF and SD-OCT could represent noninvasive imaging techniques to monitor Best VMD.
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spelling pubmed-40007182014-05-01 Multimodal analysis of the progression of Best vitelliform macular dystrophy Querques, Giuseppe Zerbib, Jennyfer Georges, Anouk Massamba, Nathalie Forte, Raimondo Querques, Lea Rozet, Jean-Michel Kaplan, Josseline Souied, Eric H. Mol Vis Research Article PURPOSE: To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease. METHODS: In this retrospective observational study performed between January 2007 and December 2012, 21 patients (42 eyes) with Best VMD from eight families with the BEST1 mutation were included. Best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SDOCT) were evaluated at study entry and at last visit. RESULTS: The mean age of patients was 26.3±17.4 years. Seven new missense mutations in BEST1 were identified. Mean follow-up was 41.1±18.5 months. Mean BCVA was 0.34±0.34 LogMAR at study entry and 0.32±0.33 LogMAR at last follow-up visit (p = 0.2). The overall lesion area on FAF increased from 6.62±4.9 mm(2) to 7.34±6.1 mm(2) (p = 0.05). At study entry, on SD-OCT, photoreceptor inner segment ellipsoid portion (ellipsoid zone, EZ) was normal in 15 eyes, disrupted in 14 eyes, and absent in 13 eyes. In two eyes, EZ changed from normal to disrupted during follow-up. Three eyes of three patients showing pseudohypopyon lesions at study entry progressed to vitelliruptive lesions at the last follow-up visit. Three eyes of three patients showing vitelliruptive lesion at study entry reverted to pseudohypopyon lesion with overall enlargement of the lesion size. CONCLUSIONS: Multimodal analysis allowed documenting a continuous material accumulation and reabsorption in Best VMD progression. Blue FAF and SD-OCT could represent noninvasive imaging techniques to monitor Best VMD. Molecular Vision 2014-04-27 /pmc/articles/PMC4000718/ /pubmed/24791142 Text en Copyright © 2014 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
spellingShingle Research Article
Querques, Giuseppe
Zerbib, Jennyfer
Georges, Anouk
Massamba, Nathalie
Forte, Raimondo
Querques, Lea
Rozet, Jean-Michel
Kaplan, Josseline
Souied, Eric H.
Multimodal analysis of the progression of Best vitelliform macular dystrophy
title Multimodal analysis of the progression of Best vitelliform macular dystrophy
title_full Multimodal analysis of the progression of Best vitelliform macular dystrophy
title_fullStr Multimodal analysis of the progression of Best vitelliform macular dystrophy
title_full_unstemmed Multimodal analysis of the progression of Best vitelliform macular dystrophy
title_short Multimodal analysis of the progression of Best vitelliform macular dystrophy
title_sort multimodal analysis of the progression of best vitelliform macular dystrophy
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000718/
https://www.ncbi.nlm.nih.gov/pubmed/24791142
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