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REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA

PURPOSE: Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone function. Although believed to be a relatively stationary disorder, questions remain regarding the stability of cone structure over time. In this study, the authors sought to...

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Autores principales: Langlo, Christopher S., Erker, Laura R., Parker, Maria, Patterson, Emily J., Higgins, Brian P., Summerfelt, Phyllis, Razeen, Moataz M., Collison, Frederick T., Fishman, Gerald A., Kay, Christine N., Zhang, Jing, Weleber, Richard G., Yang, Paul, Pennesi, Mark E., Lam, Byron L., Chulay, Jeffrey D., Dubra, Alfredo, Hauswirth, William W., Wilson, David J., Carroll, Joseph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Retina 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537050/
https://www.ncbi.nlm.nih.gov/pubmed/28145975
http://dx.doi.org/10.1097/IAE.0000000000001434
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author Langlo, Christopher S.
Erker, Laura R.
Parker, Maria
Patterson, Emily J.
Higgins, Brian P.
Summerfelt, Phyllis
Razeen, Moataz M.
Collison, Frederick T.
Fishman, Gerald A.
Kay, Christine N.
Zhang, Jing
Weleber, Richard G.
Yang, Paul
Pennesi, Mark E.
Lam, Byron L.
Chulay, Jeffrey D.
Dubra, Alfredo
Hauswirth, William W.
Wilson, David J.
Carroll, Joseph
author_facet Langlo, Christopher S.
Erker, Laura R.
Parker, Maria
Patterson, Emily J.
Higgins, Brian P.
Summerfelt, Phyllis
Razeen, Moataz M.
Collison, Frederick T.
Fishman, Gerald A.
Kay, Christine N.
Zhang, Jing
Weleber, Richard G.
Yang, Paul
Pennesi, Mark E.
Lam, Byron L.
Chulay, Jeffrey D.
Dubra, Alfredo
Hauswirth, William W.
Wilson, David J.
Carroll, Joseph
author_sort Langlo, Christopher S.
collection PubMed
description PURPOSE: Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone function. Although believed to be a relatively stationary disorder, questions remain regarding the stability of cone structure over time. In this study, the authors sought to assess the repeatability of and examine longitudinal changes in measurements of central cone structure in patients with achromatopsia. METHODS: Forty-one subjects with CNGB3-associated achromatopsia were imaged over a period of between 6 and 26 months using optical coherence tomography and adaptive optics scanning light ophthalmoscopy. Outer nuclear layer (ONL) thickness, ellipsoid zone (EZ) disruption, and peak foveal cone density were assessed. RESULTS: ONL thickness increased slightly compared with baseline (0.184 μm/month, P = 0.02). The EZ grade remained unchanged for 34/41 subjects. Peak foveal cone density did not significantly change over time (mean change 1% per 6 months, P = 0.126). CONCLUSION: Foveal cone structure showed little or no change in this group of subjects with CNGB3-associated achromatopsia. Over the time scales investigated (6–26 months), achromatopsia seems to be a structurally stable condition, although longer-term follow-up is needed. These data will be useful in assessing foveal cone structure after therapeutic intervention.
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spelling pubmed-55370502017-10-24 REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA Langlo, Christopher S. Erker, Laura R. Parker, Maria Patterson, Emily J. Higgins, Brian P. Summerfelt, Phyllis Razeen, Moataz M. Collison, Frederick T. Fishman, Gerald A. Kay, Christine N. Zhang, Jing Weleber, Richard G. Yang, Paul Pennesi, Mark E. Lam, Byron L. Chulay, Jeffrey D. Dubra, Alfredo Hauswirth, William W. Wilson, David J. Carroll, Joseph Retina Original Study PURPOSE: Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone function. Although believed to be a relatively stationary disorder, questions remain regarding the stability of cone structure over time. In this study, the authors sought to assess the repeatability of and examine longitudinal changes in measurements of central cone structure in patients with achromatopsia. METHODS: Forty-one subjects with CNGB3-associated achromatopsia were imaged over a period of between 6 and 26 months using optical coherence tomography and adaptive optics scanning light ophthalmoscopy. Outer nuclear layer (ONL) thickness, ellipsoid zone (EZ) disruption, and peak foveal cone density were assessed. RESULTS: ONL thickness increased slightly compared with baseline (0.184 μm/month, P = 0.02). The EZ grade remained unchanged for 34/41 subjects. Peak foveal cone density did not significantly change over time (mean change 1% per 6 months, P = 0.126). CONCLUSION: Foveal cone structure showed little or no change in this group of subjects with CNGB3-associated achromatopsia. Over the time scales investigated (6–26 months), achromatopsia seems to be a structurally stable condition, although longer-term follow-up is needed. These data will be useful in assessing foveal cone structure after therapeutic intervention. Retina 2017-10 2017-10-06 /pmc/articles/PMC5537050/ /pubmed/28145975 http://dx.doi.org/10.1097/IAE.0000000000001434 Text en This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Original Study
Langlo, Christopher S.
Erker, Laura R.
Parker, Maria
Patterson, Emily J.
Higgins, Brian P.
Summerfelt, Phyllis
Razeen, Moataz M.
Collison, Frederick T.
Fishman, Gerald A.
Kay, Christine N.
Zhang, Jing
Weleber, Richard G.
Yang, Paul
Pennesi, Mark E.
Lam, Byron L.
Chulay, Jeffrey D.
Dubra, Alfredo
Hauswirth, William W.
Wilson, David J.
Carroll, Joseph
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
title REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
title_full REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
title_fullStr REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
title_full_unstemmed REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
title_short REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
title_sort repeatability and longitudinal assessment of foveal cone structure in cngb3-associated achromatopsia
topic Original Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537050/
https://www.ncbi.nlm.nih.gov/pubmed/28145975
http://dx.doi.org/10.1097/IAE.0000000000001434
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