Vitor K L Takahashi1, Júlia T Takiuti2, Ruben Jauregui3, Vinit B Mahajan4, Stephen H Tsang5. 1. Department of Ophthalmology, Columbia University, New York, New York, USA; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Columbia University, New York, New York, USA; Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil. 2. Department of Ophthalmology, Columbia University, New York, New York, USA; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Columbia University, New York, New York, USA; Division of Ophthalmology, University of São Paulo Medical School, São Paulo, Brazil. 3. Department of Ophthalmology, Columbia University, New York, New York, USA; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Columbia University, New York, New York, USA; Weill Cornell Medical College, New York, New York, USA. 4. Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California, USA; Veterans Affairs Palo Alto Health Care System, Palo Alto, California, USA. 5. Department of Ophthalmology, Columbia University, New York, New York, USA; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Columbia University, New York, New York, USA. Electronic address: sht2@cumc.columbia.edu.
Abstract
PURPOSE: To determine rate of bone spicule pigmentation appearance in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, observational case series. PARTICIPANTS: A total of 240 patients were analyzed for this study. METHODS: A retrospective analysis was conducted at the Electrodiagnostic Clinic at Columbia University Medical Center of all patients' medical records with a diagnosis of RP between July 2017 and January 2018. The medical records of these patients were analyzed to determine whether the patients presented with pigment migration on their first and last visit to our clinic. Among those who did not have bone spicule at first visit, we examined the time to appearance of newly formed bone spicule. The survival distribution was then estimated using the Kaplan-Meier estimator, where the event is bone spicule and time starts at first visit. RESULTS: From the 240 patients analyzed, 213 patients presented with intraretinal pigmentation on the first visit to our clinic, and 27 patients presented without intraretinal pigmentation. Of these 27 patients, 10 patients developed pigmentation by their follow-up, with a median time to appearance of bone spicule of 5.4 years from first visit, according to the Kaplan-Meier estimates. CONCLUSIONS: The timeline of bone spicule pigment appearance in RP has important implications in the natural history characterization of disease progression and application as a biomarker for interventional trials. Published by Elsevier Inc.
PURPOSE: To determine rate of bone spicule pigmentation appearance in patients with retinitis pigmentosa (RP). DESIGN: Retrospective, observational case series. PARTICIPANTS: A total of 240 patients were analyzed for this study. METHODS: A retrospective analysis was conducted at the Electrodiagnostic Clinic at Columbia University Medical Center of all patients' medical records with a diagnosis of RP between July 2017 and January 2018. The medical records of these patients were analyzed to determine whether the patients presented with pigment migration on their first and last visit to our clinic. Among those who did not have bone spicule at first visit, we examined the time to appearance of newly formed bone spicule. The survival distribution was then estimated using the Kaplan-Meier estimator, where the event is bone spicule and time starts at first visit. RESULTS: From the 240 patients analyzed, 213 patients presented with intraretinal pigmentation on the first visit to our clinic, and 27 patients presented without intraretinal pigmentation. Of these 27 patients, 10 patients developed pigmentation by their follow-up, with a median time to appearance of bone spicule of 5.4 years from first visit, according to the Kaplan-Meier estimates. CONCLUSIONS: The timeline of bone spicule pigment appearance in RP has important implications in the natural history characterization of disease progression and application as a biomarker for interventional trials. Published by Elsevier Inc.
Authors: Jin Kyun Oh; Sarah R Levi; Joonpyo Kim; Jose Ronaldo Lima de Carvalho; Joseph Ryu; Janet R Sparrow; Stephen H Tsang Journal: Am J Ophthalmol Date: 2020-05-20 Impact factor: 5.488
Authors: Jin Kyun Oh; Jose Ronaldo Lima de Carvalho; Yan Nuzbrokh; Joseph Ryu; Teja Chemudupati; Vinit B Mahajan; Janet R Sparrow; Stephen H Tsang Journal: Invest Ophthalmol Vis Sci Date: 2020-10-01 Impact factor: 4.799
Authors: Xuan-Thanh-An Nguyen; Hind Almushattat; Ine Strubbe; Michalis Georgiou; Catherina H Z Li; Mary J van Schooneveld; Inge Joniau; Elfride De Baere; Ralph J Florijn; Arthur A Bergen; Carel B Hoyng; Michel Michaelides; Bart P Leroy; Camiel J F Boon Journal: Genes (Basel) Date: 2021-09-11 Impact factor: 4.096