Literature DB >> 26490373

Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy.

Maurizio Battaglia Parodi1, Pierluigi Iacono2, Claudia Del Turco1, Giacinto Triolo1, Francesco Bandello1.   

Abstract

PURPOSE: To identify the fundus autofluorescence (FAF) patterns in Best vitelliform macular dystrophy (VMD).
METHODS: Patients affected by VMD in vitelliform, pseudohypopyon, and vitelliruptive stages underwent a complete ophthalmological examination, including best-corrected visual acuity (BCVA), short-wavelength FAF (SW-FAF), near-infrared FAF (NIR-FAF) and microperimetry. MAIN OUTCOME MEASURES: the identification of the correlation between SW-FAF and NIR-FAF patterns of the foveal region with BCVA, and central retinal sensitivity in eyes affected by VMD. The secondary outcomes included the definition of the frequency of foveal patterns on SW-FAF and NIR-FAF.
RESULTS: Thirty-seven of 64 (58 %), 8 of 64 (12.5 %) and 19 of 64 (29.5 %) eyes showed vitelliform, pseudohypopyon, and vitelliruptive stages respectively. Three main FAF patterns were identified on both techniques: hyper-autofluorescent pattern, hypo-autofluorescent pattern, and patchy pattern. BCVA was significantly different in eyes with hypo-autofluorescent and patchy patterns with respect to eyes showing a hyper-autofluorescent pattern. Similar differences were registered in the FS according to SW-FAF classification. However, the FS differed in each subgroup in the NIR-FAF analysis. Subgroup analyses were performed on the patchy pattern, combining FAF and fundus abnormalities. Considering both FAF techniques, the BCVA differed between the vitelliform and pseudohypopyon stages, and between the vitelliform and vitelliruptive stages. In the NIR-FAF classification, there was a significant statistical difference in the FS between each subgroup; in the SW-FAF, there was a significant difference between the vitelliform and pseudohypopyon stages and the vitelliform and vitelliruptive stages.
CONCLUSIONS: Three main FAF patterns can be identified in VMD. The patchy pattern is the most frequent, accounting for 70 % of eyes on SW-FAF and 80 % of eyes on NIR-FAF. A tighter correlation links the classification of NIR-FAF patterns and FS. Longitudinal investigations are warranted to evaluate the course of FAF patterns and their role in disease monitoring.

Entities:  

Keywords:  Best vitelliform macular dystrophy; Fundus autofluorescence; Microperimetry; Near Infrared-FAF; Shortwave-FAF

Mesh:

Year:  2015        PMID: 26490373     DOI: 10.1007/s00417-015-3194-9

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN: 0721-832X            Impact factor:   3.117


  24 in total

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Authors:  M Boulton; P Dayhaw-Barker
Journal:  Eye (Lond)       Date:  2001-06       Impact factor: 3.775

2.  Clinical and molecular genetic analysis of best vitelliform macular dystrophy.

Authors:  Camiel J F Boon; Thomas Theelen; Elisabeth H Hoefsloot; Mary J van Schooneveld; Jan E E Keunen; Frans P M Cremers; B Jeroen Klevering; Carel B Hoyng
Journal:  Retina       Date:  2009-06       Impact factor: 4.256

3.  Identification of the gene responsible for Best macular dystrophy.

Authors:  K Petrukhin; M J Koisti; B Bakall; W Li; G Xie; T Marknell; O Sandgren; K Forsman; G Holmgren; S Andreasson; M Vujic; A A Bergen; V McGarty-Dugan; D Figueroa; C P Austin; M L Metzker; C T Caskey; C Wadelius
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4.  The lipofuscin component A2E selectively inhibits phagolysosomal degradation of photoreceptor phospholipid by the retinal pigment epithelium.

Authors:  Silvia C Finnemann; Lawrence W Leung; Enrique Rodriguez-Boulan
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5.  Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).

Authors:  B Bakall; R A Radu; J B Stanton; J M Burke; B S McKay; C Wadelius; R F Mullins; E M Stone; G H Travis; A D Marmorstein
Journal:  Exp Eye Res       Date:  2007-03-19       Impact factor: 3.467

6.  A histopathologic study of Best's macular dystrophy.

Authors:  G T Frangieh; W R Green; S L Fine
Journal:  Arch Ophthalmol       Date:  1982-07

7.  Histopathology of Best's macular dystrophy.

Authors:  T A Weingeist; J L Kobrin; R C Watzke
Journal:  Arch Ophthalmol       Date:  1982-07

8.  Long-term evaluation of patients with Best's vitelliform dystrophy.

Authors:  C W Mohler; S L Fine
Journal:  Ophthalmology       Date:  1981-07       Impact factor: 12.079

9.  Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.

Authors:  Robert F Mullins; Markus H Kuehn; Elizabeth A Faidley; Nasreen A Syed; Edwin M Stone
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-07       Impact factor: 4.799

10.  Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.

Authors:  Artur V Cideciyan; Malgorzata Swider; Tomas S Aleman; Marisa I Roman; Alexander Sumaroka; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
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1.  Natural course of the vitelliform stage in best vitelliform macular dystrophy: a five-year follow-up study.

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Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2019-12-17       Impact factor: 3.117

2.  Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.

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Review 3.  Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies.

Authors:  Maria Vittoria Cicinelli; Alessandro Marchese; Alessandro Bordato; Maria Pia Manitto; Francesco Bandello; Maurizio Battaglia Parodi
Journal:  Ophthalmol Ther       Date:  2020-03-05

4.  Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.

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