Jin Kyun Oh1, Sarah R Levi2, Joonpyo Kim3, Jose Ronaldo Lima de Carvalho4, Joseph Ryu2, Janet R Sparrow5, Stephen H Tsang6. 1. Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA; College of Medicine, State University of New York at Downstate Medical Center, Brooklyn, New York, USA. 2. Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA. 3. Department of Statistics, Seoul National University, Seoul, South Korea. 4. Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA; Department of Ophthalmology, Empresa Brasileira de Servicos Hospitalares, Hospital das Clinicas de Pernambuco, Federal University of Pernambuco, Recife, Pernambuco, Brazil; Department of Ophthalmology, Federal University of São Paulo, São Paulo, São Paulo, Brazil. 5. Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA; Department of Pathology and Cell Biology, and Columbia Stem Cell Initiative, Columbia University Irving Medical Center, New York, New York, USA; Department of Pathology & Cell Biology, and Columbia Stem Cell Initiative, Columbia University Irving Medical Center, New York, NY, USA. 6. Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA; Department of Pathology and Cell Biology, and Columbia Stem Cell Initiative, Columbia University Irving Medical Center, New York, New York, USA; Department of Pathology & Cell Biology, and Columbia Stem Cell Initiative, Columbia University Irving Medical Center, New York, NY, USA. Electronic address: sht2@cumc.columbia.edu.
Abstract
PURPOSE: To determine whether there are differences in the prevalence of intraretinal pigment migration (IPM) across ages and genetic causes of inherited retinal dystrophies (IRDs). DESIGN: Retrospective cohort study. METHODS: Patients were evaluated at a single tertiary referral center. All patients with a clinical diagnosis of IRD and confirmatory genetic testing were included in these analyses. A total of 392 patients fit inclusion criteria, and 151 patients were excluded based on inconclusive genetic testing. Patients were placed into 3 groups, ciliary and ciliary-related photoreceptor, nonciliary photoreceptor, and retinal pigment epithelium (RPE), based on the cellular expression of the gene and the primary affected cell type. The presence of IPM was evaluated by using slit lamp biomicroscopy, indirect ophthalmoscopy, and wide-field color fundus photography. RESULTS: IPM was seen in 257 of 339 patients (75.8%) with mutations in photoreceptor-specific genes and in 18 of 53 patients (34.0%) with mutations in RPE-specific genes (P < .0001). Pairwise analysis following stratification by age and gene category suggested significant differences at all age groups between patients with mutations in photoreceptor-specific genes and patients with mutations in RPE-specific genes (P < .05). A fitted multivariate logistic regression model was produced and demonstrated that the incidence of IPM increases as a function of both age and gene category. CONCLUSIONS: IPM is a finding more commonly observed in IRDs caused by mutations in photoreceptor-specific genes than RPE-specific genes. The absence of IPM does not always rule out IRD and should raise suspicion for disease mutations in RPE-specific genes.
PURPOSE: To determine whether there are differences in the prevalence of intraretinal pigment migration (IPM) across ages and genetic causes of inherited retinal dystrophies (IRDs). DESIGN: Retrospective cohort study. METHODS: Patients were evaluated at a single tertiary referral center. All patients with a clinical diagnosis of IRD and confirmatory genetic testing were included in these analyses. A total of 392 patients fit inclusion criteria, and 151 patients were excluded based on inconclusive genetic testing. Patients were placed into 3 groups, ciliary and ciliary-related photoreceptor, nonciliary photoreceptor, and retinal pigment epithelium (RPE), based on the cellular expression of the gene and the primary affected cell type. The presence of IPM was evaluated by using slit lamp biomicroscopy, indirect ophthalmoscopy, and wide-field color fundus photography. RESULTS: IPM was seen in 257 of 339 patients (75.8%) with mutations in photoreceptor-specific genes and in 18 of 53 patients (34.0%) with mutations in RPE-specific genes (P < .0001). Pairwise analysis following stratification by age and gene category suggested significant differences at all age groups between patients with mutations in photoreceptor-specific genes and patients with mutations in RPE-specific genes (P < .05). A fitted multivariate logistic regression model was produced and demonstrated that the incidence of IPM increases as a function of both age and gene category. CONCLUSIONS: IPM is a finding more commonly observed in IRDs caused by mutations in photoreceptor-specific genes than RPE-specific genes. The absence of IPM does not always rule out IRD and should raise suspicion for disease mutations in RPE-specific genes.
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