Literature DB >> 26427423

Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.

Janet R Sparrow1,2, Tobias Duncker3, Russell Woods4, François C Delori5.   

Abstract

Since the lipofuscin of retinal pigment epithelial (RPE) cells has been implicated in the pathogenesis of Best vitelliform macular dystrophy, we quantified fundus autofluorescence (quantitative fundus autofluorescence, qAF) as an indirect measure of RPE lipofuscin levels. Mean non-lesion qAF was found to be within normal limits for age. By spectral domain optical coherence tomography (SD-OCT) vitelliform lesions presented as fluid-filled subretinal detachments containing reflective material. We discuss photoreceptor outer segment debris as the source of the intense fluorescence of these lesions and loss of anion channel functioning as an explanation for the bullous photoreceptor-RPE detachment. Unexplained is the propensity of the disease for central retina.

Entities:  

Keywords:  BEST1; Best vitelliform macular dystrophy; Fundus autofluorescence; Quantitative autofluorescence; SD-OCT

Mesh:

Substances:

Year:  2016        PMID: 26427423      PMCID: PMC5779626          DOI: 10.1007/978-3-319-17121-0_38

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  32 in total

1.  Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.

Authors:  A D Marmorstein; L Y Marmorstein; M Rayborn; X Wang; J G Hollyfield; K Petrukhin
Journal:  Proc Natl Acad Sci U S A       Date:  2000-11-07       Impact factor: 11.205

2.  Quantitative measurements of autofluorescence with the scanning laser ophthalmoscope.

Authors:  François Delori; Jonathan P Greenberg; Russell L Woods; Jörg Fischer; Tobias Duncker; Janet Sparrow; R Theodore Smith
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-12-09       Impact factor: 4.799

3.  Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.

Authors:  A G Robson; Z Saihan; S A Jenkins; F W Fitzke; A C Bird; A R Webster; G E Holder
Journal:  Br J Ophthalmol       Date:  2006-04       Impact factor: 4.638

4.  ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.

Authors:  Artur V Cideciyan; Malgorzata Swider; Tomas S Aleman; Alexander Sumaroka; Sharon B Schwartz; Marisa I Roman; Ann H Milam; Jean Bennett; Edwin M Stone; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-12       Impact factor: 4.799

5.  The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

Authors:  Michel Michaelides; Marie-Claire Gaillard; Pascal Escher; Leila Tiab; Matthew Bedell; François-Xavier Borruat; Daniel Barthelmes; Ruben Carmona; Kang Zhang; Edward White; Michelle McClements; Anthony G Robson; Graham E Holder; Keith Bradshaw; David M Hunt; Andrew R Webster; Anthony T Moore; Daniel F Schorderet; Francis L Munier
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-04-14       Impact factor: 4.799

6.  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

7.  In vivo measurement of lipofuscin in Stargardt's disease--Fundus flavimaculatus.

Authors:  F C Delori; G Staurenghi; O Arend; C K Dorey; D G Goger; J J Weiter
Journal:  Invest Ophthalmol Vis Sci       Date:  1995-10       Impact factor: 4.799

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

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

9.  Histopathology of Best's macular dystrophy.

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

Review 10.  Functional roles of bestrophins in ocular epithelia.

Authors:  Alan D Marmorstein; Harold E Cross; Neal S Peachey
Journal:  Prog Retin Eye Res       Date:  2009-05-04       Impact factor: 21.198

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  8 in total

Review 1.  Lessons learned from quantitative fundus autofluorescence.

Authors:  Janet R Sparrow; Tobias Duncker; Kaspar Schuerch; Maarjaliis Paavo; Jose Ronaldo Lima de Carvalho
Journal:  Prog Retin Eye Res       Date:  2019-08-28       Impact factor: 21.198

2.  Ocular Imaging for Enhancing the Understanding, Assessment, and Management of Age-Related Macular Degeneration.

Authors:  Marco Nassisi; Srinivas R Sadda
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 3.  Bestrophinopathy: An RPE-photoreceptor interface disease.

Authors:  Karina E Guziewicz; Divya Sinha; Néstor M Gómez; Kathryn Zorych; Emily V Dutrow; Anuradha Dhingra; Robert F Mullins; Edwin M Stone; David M Gamm; Kathleen Boesze-Battaglia; Gustavo D Aguirre
Journal:  Prog Retin Eye Res       Date:  2017-01-19       Impact factor: 21.198

4.  Impact of the Aging Lens and Posterior Capsular Opacification on Quantitative Autofluorescence Imaging in Age-Related Macular Degeneration.

Authors:  Andreas Berlin; Mark E Clark; Thomas A Swain; Nathan A Fischer; Gerald McGwin; Kenneth R Sloan; Cynthia Owsley; Christine A Curcio
Journal:  Transl Vis Sci Technol       Date:  2022-10-03       Impact factor: 3.048

5.  Quantifying lipofuscin in retinal pigment epithelium in vivo by visible-light optical coherence tomography-based multimodal imaging.

Authors:  Zahra Nafar; Rong Wen; Ziqiang Guan; Yiwen Li; Shuliang Jiao
Journal:  Sci Rep       Date:  2020-02-19       Impact factor: 4.379

6.  Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.

Authors:  Rait Parmann; Vivienne C Greenstein; Stephen H Tsang; Janet R Sparrow
Journal:  Invest Ophthalmol Vis Sci       Date:  2022-07-08       Impact factor: 4.925

7.  Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.

Authors:  Jin Kyun Oh; Jose Ronaldo Lima de Carvalho; Joseph Ryu; Stephen H Tsang; Janet R Sparrow
Journal:  Sci Rep       Date:  2020-06-02       Impact factor: 4.379

8.  Quantitative Fundus Autofluorescence: Advanced Analysis Tools.

Authors:  Nikolai Kleefeldt; Katharina Bermond; Ioana-Sandra Tarau; Jost Hillenkamp; Andreas Berlin; Kenneth R Sloan; Thomas Ach
Journal:  Transl Vis Sci Technol       Date:  2020-07-01       Impact factor: 3.283

  8 in total

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