Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa
Abstract Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the progressive shortening of the ellipsoid zo...
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doaj-d8d7f428d28a4c898d76ce6a94f0c1c62020-11-25T04:03:53ZengBMCOrphanet Journal of Rare Diseases1750-11722019-08-011411910.1186/s13023-019-1163-9Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosaVitor K. L. Takahashi0Christine L. Xu1Júlia T. Takiuti2Mary Ben L. Apatoff3Jimmy K. Duong4Vinit B. Mahajan5Stephen H. Tsang6Department of Ophthalmology, Columbia UniversityDepartment of Ophthalmology, Columbia UniversityDepartment of Ophthalmology, Columbia UniversityDepartment of Ophthalmology, Columbia UniversityDepartment of Biostatistics, Columbia UniversityByers Eye Institute, Omics Laboratory, Department of Ophthalmology, Stanford University School of MedicineDepartment of Ophthalmology, Columbia UniversityAbstract Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the progressive shortening of the ellipsoid zone line width obtained by spectral-domain optical coherence tomography (SD-OCT). Results For the ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 259 μm per year and the ring area decreased at a rate of 2.46 mm2 per year. For the non-ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 84 μm per year and the ring area decreased at a rate of 0.7 mm2 per year. Conclusions Our study was able to quantify and compare the loss of EZ line width and short-wavelength autofluorescence (SW-AF) ring constriction progression over time for ciliopathy and non-ciliopathy arRP genes. These results may serve as a basis for modeling RP disease progression, and furthermore, they could potentially be used as endpoints in clinical trials seeking to promote cone and rod survival in RP patients.http://link.springer.com/article/10.1186/s13023-019-1163-9Retinitis pigmentosaCiliopathyAutosomal recessiveDisease progression |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Vitor K. L. Takahashi Christine L. Xu Júlia T. Takiuti Mary Ben L. Apatoff Jimmy K. Duong Vinit B. Mahajan Stephen H. Tsang |
spellingShingle |
Vitor K. L. Takahashi Christine L. Xu Júlia T. Takiuti Mary Ben L. Apatoff Jimmy K. Duong Vinit B. Mahajan Stephen H. Tsang Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa Orphanet Journal of Rare Diseases Retinitis pigmentosa Ciliopathy Autosomal recessive Disease progression |
author_facet |
Vitor K. L. Takahashi Christine L. Xu Júlia T. Takiuti Mary Ben L. Apatoff Jimmy K. Duong Vinit B. Mahajan Stephen H. Tsang |
author_sort |
Vitor K. L. Takahashi |
title |
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa |
title_short |
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa |
title_full |
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa |
title_fullStr |
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa |
title_full_unstemmed |
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa |
title_sort |
comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2019-08-01 |
description |
Abstract Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the progressive shortening of the ellipsoid zone line width obtained by spectral-domain optical coherence tomography (SD-OCT). Results For the ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 259 μm per year and the ring area decreased at a rate of 2.46 mm2 per year. For the non-ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 84 μm per year and the ring area decreased at a rate of 0.7 mm2 per year. Conclusions Our study was able to quantify and compare the loss of EZ line width and short-wavelength autofluorescence (SW-AF) ring constriction progression over time for ciliopathy and non-ciliopathy arRP genes. These results may serve as a basis for modeling RP disease progression, and furthermore, they could potentially be used as endpoints in clinical trials seeking to promote cone and rod survival in RP patients. |
topic |
Retinitis pigmentosa Ciliopathy Autosomal recessive Disease progression |
url |
http://link.springer.com/article/10.1186/s13023-019-1163-9 |
work_keys_str_mv |
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