Author:
Lynn Jacob,Raney Austin,Britton Nathaniel,Ramoin Josh,Yang Ryan W.,Radojevic Bojana,McClard Cynthia K.,Kingsley Ronald,Coussa Razek Georges,Bennett Lea D.
Abstract
The overlapping genetic and clinical spectrum in inherited retinal degeneration (IRD) creates challenges for accurate diagnoses. The goal of this work was to determine the genetic diagnosis and clinical features for patients diagnosed with an IRD. After signing informed consent, peripheral blood or saliva was collected from 64 patients diagnosed with an IRD. Genetic testing was performed on each patient in a Clinical Laboratory Improvement Amendments of 1988 (CLIA) certified laboratory. Mutations were verified with Sanger sequencing and segregation analysis when possible. Visual acuity was measured with a traditional Snellen chart and converted to a logarithm of minimal angle of resolution (logMAR). Fundus images of dilated eyes were acquired with the Optos® camera (Dunfermline, UK). Horizontal line scans were obtained with spectral-domain optical coherence tomography (SDOCT; Spectralis, Heidelberg, Germany). Genetic testing combined with segregation analysis resolved molecular and clinical diagnoses for 75% of patients. Ten novel mutations were found and unique genotype phenotype associations were made for the genes RP2 and CEP83. Collective knowledge is thereby expanded of the genetic basis and phenotypic correlation in IRD.
Funder
National Eye Institute at the National Institutes of Health
Oklahoma Shared Center for Translational Research
Presbyterian Health Foundation
NIH
Research to Prevent Blindness Inc.
Subject
Genetics (clinical),Genetics
Reference106 articles.
1. Estimates of incidence and prevalence of visual impairment, low vision, and blindness in the united states;Chan;JAMA Ophthalmol.,2018
2. Molecular genetics and prospects for therapy of the inherited retinal dystrophies;Bessant;Curr. Opin. Genet. Dev.,2001
3. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies;Sohocki;Hum. Mutat.,2001
4. Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., and Amemiya, A. (1993). Genereviews((r)), University of Washington.
5. Genes and mutations causing retinitis pigmentosa;Daiger;Clin. Genet.,2013
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献