Literature DB >> 22076985

Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP).

Margot A Lazow1, Donald C Hood, Rithambara Ramachandran, Tomas R Burke, Yi-Zhong Wang, Vivienne C Greenstein, David G Birch.   

Abstract

PURPOSE: To describe the structural changes across the transition zone (TZ) in choroideremia (CHM) and Stargardt disease (STGD) and to compare these to the TZ in retinitis pigmentosa (RP).
METHODS: Frequency-domain (Fd)OCT line scans were obtained from seven patients with CHM, 20 with STGD, and 12 with RP and compared with those of 30 previously studied controls. A computer-aided manual segmentation procedure was used to determine the thicknesses of the outer segment (OS) layer, the outer nuclear layer plus outer plexiform layer (ONL+), the retinal pigment epithelium plus Bruch's membrane (RPE+BM), and the outer retina (OR).
RESULTS: The TZ, while consistent within patient groups, showed differences across disease groups. In particular, (1) OS loss occurred before ONL+ loss in CHM and RP, whereas ONL+ loss occurred before OS loss in STGD; (2) ONL+ was preserved over a wider region of the retina in CHM than in RP; (3) RPE+BM remained normal across the RP TZ, but was typically thinned in CHM. In some CHM patients, it was abnormally thin in regions with normal OS and ONL+ thickness. In STGD, RPE+BM was thinned by the end of the TZ; and (4) the disappearances of the IS/OS and OLM were more abrupt in CHM and STGD than in RP.
CONCLUSIONS: On fdOCT scans, patients with RP, CHM, and STGD all have a TZ between relatively healthy and severely affected retina. The patterns of changes in the receptor layers are similar within a disease category, but different across categories. The findings suggest that the pattern of progression of each disease is distinct and may offer clues for strategies in the development of future therapies.

Entities:  

Mesh:

Year:  2011        PMID: 22076985      PMCID: PMC3341121          DOI: 10.1167/iovs.11-8554

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


  26 in total

1.  Fundus appearance of choroideremia using optical coherence tomograpy.

Authors:  Bradley J Katz; Zhenglin Yang; Marielle Payne; Yin Lin; Yu Zhao; Erik Pearson; Shan Duan; Shin Kamaya; Goutam Karan; Kang Zhang
Journal:  Adv Exp Med Biol       Date:  2006       Impact factor: 2.622

2.  Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.

Authors:  Marco Mura; Christina Sereda; Monica M Jablonski; Ian M MacDonald; Alessandro Iannaccone
Journal:  Arch Ophthalmol       Date:  2007-08

3.  A histopathologic study of a choroideremia carrier.

Authors:  J G Flannery; A C Bird; D B Farber; R G Weleber; D Bok
Journal:  Invest Ophthalmol Vis Sci       Date:  1990-02       Impact factor: 4.799

4.  Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

Authors:  Samuel G Jacobson; Artur V Cideciyan; Alexander Sumaroka; Tomas S Aleman; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Edwin M Stone; Ian M MacDonald
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-09       Impact factor: 4.799

5.  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

6.  Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

Authors:  Samuel G Jacobson; Tomas S Aleman; Alexander Sumaroka; Artur V Cideciyan; Alejandro J Roman; Elizabeth A M Windsor; Sharon B Schwartz; Heidi L Rehm; William J Kimberling
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-12-13       Impact factor: 4.799

7.  Clinical findings in a carrier of a new mutation in the choroideremia gene.

Authors:  Michael J Potter; Edward Wong; Shelagh M Szabo; Kerry E McTaggart
Journal:  Ophthalmology       Date:  2004-10       Impact factor: 12.079

8.  Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia.

Authors:  Bryan L Krock; Joseph Bilotta; Brian D Perkins
Journal:  Proc Natl Acad Sci U S A       Date:  2007-03-05       Impact factor: 11.205

9.  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

Review 10.  Understanding the etiology of Stargardt's disease.

Authors:  Liane Clamen Glazer; Thaddeus P Dryja
Journal:  Ophthalmol Clin North Am       Date:  2002-03
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  34 in total

1.  High-resolution adaptive optics retinal imaging of cellular structure in choroideremia.

Authors:  Jessica I W Morgan; Grace Han; Eva Klinman; William M Maguire; Daniel C Chung; Albert M Maguire; Jean Bennett
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-09-04       Impact factor: 4.799

2.  Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.

Authors:  Adam M Dubis; Robert F Cooper; Jonathan Aboshiha; Christopher S Langlo; Venki Sundaram; Benjamin Liu; Frederick Collison; Gerald A Fishman; Anthony T Moore; Andrew R Webster; Alfredo Dubra; Joseph Carroll; Michel Michaelides
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-10-02       Impact factor: 4.799

3.  Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.

Authors:  Tobias Duncker; Marcela Marsiglia; Winston Lee; Jana Zernant; Stephen H Tsang; Rando Allikmets; Vivienne C Greenstein; Janet R Sparrow
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-10-23       Impact factor: 4.799

4.  Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.

Authors:  Tomas S Aleman; Grace Han; Leona W Serrano; Nicole M Fuerst; Emily S Charlson; Denise J Pearson; Daniel C Chung; Anastasia Traband; Wei Pan; Gui-Shuang Ying; Jean Bennett; Albert M Maguire; Jessica I W Morgan
Journal:  Ophthalmology       Date:  2016-12-13       Impact factor: 12.079

5.  Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Authors:  Tommaso Verdina; Vivienne C Greenstein; Andrea Sodi; Stephen H Tsang; Tomas R Burke; Ilaria Passerini; Rando Allikmets; Gianni Virgili; Gian Maria Cavallini; Stanislao Rizzo
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2017-04-02       Impact factor: 3.117

6.  High-resolution images of retinal structure in patients with choroideremia.

Authors:  Reema Syed; Sanna M Sundquist; Kavitha Ratnam; Shiri Zayit-Soudry; Yuhua Zhang; J Brooks Crawford; Ian M MacDonald; Pooja Godara; Jungtae Rha; Joseph Carroll; Austin Roorda; Kimberly E Stepien; Jacque L Duncan
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-02-01       Impact factor: 4.799

7.  Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.

Authors:  Winston Lee; Jana Zernant; Takayuki Nagasaki; Stephen H Tsang; Rando Allikmets
Journal:  Am J Ophthalmol       Date:  2018-07-26       Impact factor: 5.258

8.  Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa.

Authors:  David G Birch; Kirsten G Locke; Yuquan Wen; Kelly I Locke; Dennis R Hoffman; Donald C Hood
Journal:  JAMA Ophthalmol       Date:  2013-09       Impact factor: 7.389

9.  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

10.  Optical coherence tomography biomarkers of photoreceptor degeneration in retinitis pigmentosa.

Authors:  Yuting Gong; Honghe Xia; Anlin Zhang; Li Jia Chen; Haoyu Chen
Journal:  Int Ophthalmol       Date:  2021-07-25       Impact factor: 2.031

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