PMID- 31370859 OWN - NLM STAT- MEDLINE DCOM- 20200427 LR - 20200427 IS - 1750-1172 (Electronic) IS - 1750-1172 (Linking) VI - 14 IP - 1 DP - 2019 Aug 1 TI - Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa. PG - 187 LID - 10.1186/s13023-019-1163-9 [doi] LID - 187 AB - 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 mum per year and the ring area decreased at a rate of 2.46 mm(2) per year. For the non-ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 84 mum per year and the ring area decreased at a rate of 0.7 mm(2) 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. FAU - Takahashi, Vitor K L AU - Takahashi VKL AD - Department of Ophthalmology, Columbia University, New York, NY, USA. AD - 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. AD - Department of Ophthalmology, Federal University of Sao Paulo, Sao Paulo, Brazil. FAU - Xu, Christine L AU - Xu CL AD - Department of Ophthalmology, Columbia University, New York, NY, USA. AD - 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. FAU - Takiuti, Julia T AU - Takiuti JT AD - Department of Ophthalmology, Columbia University, New York, NY, USA. AD - 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. AD - Division of Ophthalmology, University of Sao Paulo Medical School, Sao Paulo, Brazil. FAU - Apatoff, Mary Ben L AU - Apatoff MBL AD - Department of Ophthalmology, Columbia University, New York, NY, USA. AD - 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. FAU - Duong, Jimmy K AU - Duong JK AD - Department of Biostatistics, Columbia University, New York, NY, USA. FAU - Mahajan, Vinit B AU - Mahajan VB AD - Byers Eye Institute, Omics Laboratory, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, CA, USA. AD - Veterans Affairs Palo Alto Health Care System, Palo Alto, CA, USA. FAU - Tsang, Stephen H AU - Tsang SH AD - Department of Ophthalmology, Columbia University, New York, NY, USA. gene.editing@gmail.com. AD - 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. AD - 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. AD - Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, Box 212, New York, NY, 10032, USA. gene.editing@gmail.com. LA - eng GR - P30EY019007/NH/NIH HHS/United States GR - R01EY024698/NH/NIH HHS/United States GR - R01EY026682/NH/NIH HHS/United States GR - R01EY018213/NH/NIH HHS/United States GR - R21AG050437/NH/NIH HHS/United States GR - 5P30CA013696/National Cancer Institute Core/International PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20190801 PL - England TA - Orphanet J Rare Dis JT - Orphanet journal of rare diseases JID - 101266602 SB - IM MH - Adolescent MH - Adult MH - Aged MH - Ciliopathies/*pathology MH - Female MH - Humans MH - Male MH - Middle Aged MH - Mutation/genetics MH - Retinitis Pigmentosa/*pathology MH - Tomography, Optical Coherence MH - Young Adult PMC - PMC6676605 OTO - NOTNLM OT - Autosomal recessive OT - Ciliopathy OT - Disease progression OT - Retinitis pigmentosa COIS- The authors declare that they have no competing interests. EDAT- 2019/08/03 06:00 MHDA- 2020/04/28 06:00 PMCR- 2019/08/01 CRDT- 2019/08/03 06:00 PHST- 2019/01/03 00:00 [received] PHST- 2019/07/22 00:00 [accepted] PHST- 2019/08/03 06:00 [entrez] PHST- 2019/08/03 06:00 [pubmed] PHST- 2020/04/28 06:00 [medline] PHST- 2019/08/01 00:00 [pmc-release] AID - 10.1186/s13023-019-1163-9 [pii] AID - 1163 [pii] AID - 10.1186/s13023-019-1163-9 [doi] PST - epublish SO - Orphanet J Rare Dis. 2019 Aug 1;14(1):187. doi: 10.1186/s13023-019-1163-9.