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Orphanet J Rare Dis. 2019 Aug 1;14(1):187. doi: 10.1186/s13023-019-1163-9.

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.

Author information

1
Department of Ophthalmology, Columbia University, New York, NY, USA.
2
Jonas Children's Vision Care, and the Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Columbia University, New York, NY, USA.
3
Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.
4
Division of Ophthalmology, University of São Paulo Medical School, São Paulo, Brazil.
5
Department of Biostatistics, Columbia University, New York, NY, USA.
6
Byers Eye Institute, Omics Laboratory, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, CA, USA.
7
Veterans Affairs Palo Alto Health Care System, Palo Alto, CA, USA.
8
Department of Ophthalmology, Columbia University, New York, NY, USA. gene.editing@gmail.com.
9
Jonas Children's Vision Care, and the Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Columbia University, New York, NY, USA. gene.editing@gmail.com.
10
Department of Pathology & Cell Biology, Stem Cell Initiative (CSCI), Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY, USA. gene.editing@gmail.com.
11
Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, Box 212, New York, NY, 10032, USA. gene.editing@gmail.com.

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.

KEYWORDS:

Autosomal recessive; Ciliopathy; Disease progression; Retinitis pigmentosa

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