Literature DB >> 22247458

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.

Artur V Cideciyan1, Malgorzata Swider, Tomas S Aleman, Willam J Feuer, Sharon B Schwartz, Robert C Russell, Janet D Steinberg, Edwin M Stone, Samuel G Jacobson.   

Abstract

PURPOSE: To measure macular visual function in patients with unstable fixation, to define the photoreceptor source of this function, and to estimate its test-retest repeatability as a prerequisite to clinical trials.
METHODS: Patients (n = 38) with ABCA4-associated retinal degeneration (RD) or with retinitis pigmentosa (RP) were studied with retina-tracking microperimetry along the foveo-papillary profile between the fovea and the optic nerve head, and point-by-point test-retest repeatability was estimated. A subset with foveal fixation was also studied with dark-adapted projection perimetry using monochromatic blue and red stimuli along the horizontal meridian.
RESULTS: Macular function in ABCA4-RD patients transitioned from lower sensitivity at the parafovea to higher sensitivity in the perifovea. RP patients had the inverse pattern. Red-on-red microperimetric sensitivities successfully avoided ceiling effects and were highly correlated with absolute sensitivities. Point-by-point test-retest limits (95% confidence intervals) were ±4.2 dB; repeatability was not related to mean sensitivity, eccentricity from the fovea, age, fixation location, or instability. Repeatability was also not related to the local slope of sensitivity and was unchanged in the parapapillary retina.
CONCLUSIONS: Microperimetry allows reliable testing of macular function in RD patients without foveal fixation in longitudinal studies evaluating natural disease progression or efficacy of therapeutic trials. A single estimate of test-retest repeatability can be used to determine significant changes in visual function at individual retinal loci within diseased regions that are homogeneous and those that are heterogeneous and also in transition zones at high risk for disease progression.

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Year:  2012        PMID: 22247458      PMCID: PMC3317423          DOI: 10.1167/iovs.11-8415

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN: 0146-0404            Impact factor:   4.799


  73 in total

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2.  Properties of perimetric threshold estimates from Full Threshold, SITA Standard, and SITA Fast strategies.

Authors:  Paul H Artes; Aiko Iwase; Yuko Ohno; Yoshiaki Kitazawa; Balwantray C Chauhan
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-08       Impact factor: 4.799

3.  Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Authors:  J M Rozet; S Gerber; I Ghazi; I Perrault; D Ducroq; E Souied; A Cabot; J L Dufier; A Munnich; J Kaplan
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

4.  Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa.

Authors:  S G Jacobson; W J Voigt; J M Parel; P P Apáthy; L Nghiem-Phu; S W Myers; V M Patella
Journal:  Ophthalmology       Date:  1986-12       Impact factor: 12.079

5.  Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

Authors:  B Jeroen Klevering; Anita Blankenagel; Alessandra Maugeri; Frans P M Cremers; Carel B Hoyng; Klaus Rohrschneider
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-06       Impact factor: 4.799

6.  Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

Authors:  C E Briggs; D Rucinski; P J Rosenfeld; T Hirose; E L Berson; T P Dryja
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-09       Impact factor: 4.799

7.  Retinal localization of scotomata by scanning laser ophthalmoscopy.

Authors:  G T Timberlake; M A Mainster; R H Webb; G W Hughes; C L Trempe
Journal:  Invest Ophthalmol Vis Sci       Date:  1982-01       Impact factor: 4.799

8.  Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.

Authors:  Artur V Cideciyan; Tomas S Aleman; Malgorzata Swider; Sharon B Schwartz; Janet D Steinberg; Alexander J Brucker; Albert M Maguire; Jean Bennett; Edwin M Stone; Samuel G Jacobson
Journal:  Hum Mol Genet       Date:  2004-01-06       Impact factor: 6.150

9.  Photopic and scotopic fine matrix mapping of retinal areas of increased fundus autofluorescence in patients with age-related maculopathy.

Authors:  Hendrik P N Scholl; Caren Bellmann; Samantha S Dandekar; Alan C Bird; Frederick W Fitzke
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-02       Impact factor: 4.799

10.  ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.

Authors:  Gerald A Fishman; Edwin M Stone; David A Eliason; Chris M Taylor; Martin Lindeman; Deborah J Derlacki
Journal:  Arch Ophthalmol       Date:  2003-06
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  52 in total

1.  Pseudo-fovea formation after gene therapy for RPE65-LCA.

Authors:  Artur V Cideciyan; Geoffrey K Aguirre; Samuel G Jacobson; Omar H Butt; Sharon B Schwartz; Malgorzata Swider; Alejandro J Roman; Sam Sadigh; William W Hauswirth
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-12-23       Impact factor: 4.799

2.  Retinal Structure in Pre-Clinical Age-Related Macular Degeneration.

Authors:  S Nusinowitz; Y Wang; P Kim; S Habib; R Baron; Y Conley; M Gorin
Journal:  Curr Eye Res       Date:  2017-11-14       Impact factor: 2.424

Review 3.  Leber congenital amaurosis caused by mutations in GUCY2D.

Authors:  Shannon E Boye
Journal:  Cold Spring Harb Perspect Med       Date:  2014-09-25       Impact factor: 6.915

4.  Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

Authors:  Samuel G Jacobson; Artur V Cideciyan; Igor V Peshenko; Alexander Sumaroka; Elena V Olshevskaya; Lihui Cao; Sharon B Schwartz; Alejandro J Roman; Melani B Olivares; Sam Sadigh; King-Wai Yau; Elise Heon; Edwin M Stone; Alexander M Dizhoor
Journal:  Hum Mol Genet       Date:  2012-10-03       Impact factor: 6.150

5.  Longitudinal Microperimetric Changes of Macular Sensitivity in Stargardt Disease After 12 Months: ProgStar Report No. 13.

Authors:  Etienne M Schönbach; Rupert W Strauss; Beatriz Muñoz; Yulia Wolfson; Mohamed A Ibrahim; David G Birch; Eberhart Zrenner; Janet S Sunness; Michael S Ip; SriniVas R Sadda; Sheila K West; Hendrik P N Scholl
Journal:  JAMA Ophthalmol       Date:  2020-07-01       Impact factor: 7.389

6.  Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.

Authors:  Wei Chieh Huang; Artur V Cideciyan; Alejandro J Roman; Alexander Sumaroka; Rebecca Sheplock; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-03-20       Impact factor: 4.799

Review 7.  Fundus-driven perimetry (microperimetry) compared to conventional static automated perimetry: similarities, differences, and clinical applications.

Authors:  Jennifer H Acton; Vivienne C Greenstein
Journal:  Can J Ophthalmol       Date:  2013-09-02       Impact factor: 1.882

Review 8.  Microperimetry for geographic atrophy secondary to age-related macular degeneration.

Authors:  Karl G Csaky; Praveen J Patel; Yasir J Sepah; David G Birch; Diana V Do; Michael S Ip; Robyn H Guymer; Chi D Luu; Shamika Gune; Hugh Lin; Daniela Ferrara
Journal:  Surv Ophthalmol       Date:  2019-01-28       Impact factor: 6.048

9.  The human rhodopsin kinase promoter in an AAV5 vector confers rod- and cone-specific expression in the primate retina.

Authors:  Shannon E Boye; John J Alexander; Sanford L Boye; Clark D Witherspoon; Kristen J Sandefer; Thomas J Conlon; Kirsten Erger; Jingfen Sun; Renee Ryals; Vince A Chiodo; Mark E Clark; Christopher A Girkin; William W Hauswirth; Paul D Gamlin
Journal:  Hum Gene Ther       Date:  2012-09-20       Impact factor: 5.695

10.  Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Authors:  Francesco Testa; Paolo Melillo; Valentina Di Iorio; Ada Orrico; Marcella Attanasio; Settimio Rossi; Francesca Simonelli
Journal:  Ophthalmology       Date:  2014-08-02       Impact factor: 12.079

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