Literature DB >> 22871184

Abnormality in the external limiting membrane in early Stargardt disease.

Tomas R Burke1, Suzanne Yzer, Jana Zernant, R Theodore Smith, Stephen H Tsang, Rando Allikmets.   

Abstract

Stargardt disease (STGD1) is caused by mutations in the ABCA4 gene. It has previously been reported that abnormalities in STGD1 may be detectable in the photoreceptors using spectral domain-optical coherence tomography (SD-OCT) prior to the detection of retinal pigment epithelium abnormalities. We present a 5-year-old asymptomatic girl with normal appearing fundi who possessed pathogenic ABCA4 variants on both chromosomes and where thickening of the external limiting membrane was the only abnormality detected on SD-OCT.

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22871184      PMCID： PMC4115808          DOI： 10.3109/13816810.2012.707271

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


  7 in total

1.  G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

Authors:  Wener Cella; Vivienne C Greenstein; Jana Zernant-Rajang; Theodore R Smith; Gaetano Barile; Rando Allikmets; Stephen H Tsang
Journal:  Exp Eye Res       Date:  2009-02-13       Impact factor: 3.467

2.  Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.

Authors:  G A Fishman; E M Stone; S Grover; D J Derlacki; H L Haines; R R Hockey
Journal:  Arch Ophthalmol       Date:  1999-04

3.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Authors:  R Allikmets; N Singh; H Sun; N F Shroyer; A Hutchinson; A Chidambaram; B Gerrard; L Baird; D Stauffer; A Peiffer; A Rattner; P Smallwood; Y Li; K L Anderson; R A Lewis; J Nathans; M Leppert; M Dean; J R Lupski
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

4.  Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1).

Authors:  Tomas R Burke; David W Rhee; R Theodore Smith; Stephen H Tsang; Rando Allikmets; Stanley Chang; Margot A Lazow; Donald C Hood; Vivienne C Greenstein
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-10-10       Impact factor: 4.799

5.  Infrared scanning laser ophthalmoscope imaging of the macula and its correlation with functional loss and structural changes in patients with stargardt disease.

Authors:  Anastasios Anastasakis; Gerald A Fishman; Martin Lindeman; Mohamed A Genead; Wensheng Zhou
Journal:  Retina       Date:  2011-05       Impact factor: 4.256

Review 6.  Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model.

Authors:  Richard F Spaide; Christine A Curcio
Journal:  Retina       Date:  2011-09       Impact factor: 4.256

7.  Lipofuscin and autofluorescence metrics in progressive STGD.

Authors:  R Theodore Smith; Nuno L Gomes; Gaetano Barile; Mihai Busuioc; Noah Lee; Andrew Laine
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-04-22       Impact factor: 4.799
  7 in total
  9 in total

1.  Inner Segment Remodeling and Mitochondrial Translocation in Cone Photoreceptors in Age-Related Macular Degeneration With Outer Retinal Tubulation.

Authors:  Katie M Litts; Jeffrey D Messinger; K Bailey Freund; Yuhua Zhang; Christine A Curcio
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-04       Impact factor: 4.799

Review 2.  Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Authors:  Frans P M Cremers; Winston Lee; Rob W J Collin; Rando Allikmets
Journal:  Prog Retin Eye Res       Date:  2020-04-09       Impact factor: 21.198

3.  The external limiting membrane in early-onset Stargardt disease.

Authors:  Winston Lee; Kalev Nõupuu; Maris Oll; Tobias Duncker; Tomas Burke; Jana Zernant; Srilaxmi Bearelly; Stephen H Tsang; Janet R Sparrow; Rando Allikmets
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-08-19       Impact factor: 4.799

4.  Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Authors:  Tobias Duncker; Stephen H Tsang; Winston Lee; Jana Zernant; Rando Allikmets; François C Delori; Janet R Sparrow
Journal:  Ophthalmology       Date:  2014-10-03       Impact factor: 12.079

5.  Neurodegeneration, gliosis, and resolution of haemorrhage in neovascular age-related macular degeneration, a clinicopathologic correlation.

Authors:  Miaoling Li; Rosa Dolz-Marco; Jeffrey D Messinger; Daniela Ferrara; K Bailey Freund; Christine A Curcio
Journal:  Eye (Lond)       Date:  2020-05-04       Impact factor: 3.775

Review 6.  Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.

Authors:  Preena Tanna; Rupert W Strauss; Kaoru Fujinami; Michel Michaelides
Journal:  Br J Ophthalmol       Date:  2016-08-04       Impact factor: 4.638

7.  Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Authors:  Edoardo Abed; Giorgio Placidi; Luigi Calandriello; Marco Piccardi; Francesca Campagna; Matteo Bertelli; Angelo Maria Minnella; Maria Cristina Savastano; Benedetto Falsini
Journal:  J Ophthalmol       Date:  2017-08-20       Impact factor: 1.909

8.  Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

Authors:  Kamron N Khan; Melissa Kasilian; Omar A R Mahroo; Preena Tanna; Angelos Kalitzeos; Anthony G Robson; Kazushige Tsunoda; Takeshi Iwata; Anthony T Moore; Kaoru Fujinami; Michel Michaelides
Journal:  Ophthalmology       Date:  2018-01-06       Impact factor: 12.079

Review 9.  The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions.

Authors:  Saoud Al-Khuzaei; Mital Shah; Charlotte R Foster; Jing Yu; Suzanne Broadgate; Stephanie Halford; Susan M Downes
Journal:  Ther Adv Ophthalmol       Date:  2021-12-19
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.