Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History
To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. Retrospective case series. Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT...
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Published in | American journal of ophthalmology Vol. 221; pp. 299 - 310 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
01.01.2021
Elsevier Limited Elsevier Science |
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Online Access | Get full text |
ISSN | 0002-9394 1879-1891 1879-1891 |
DOI | 10.1016/j.ajo.2020.08.004 |
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Abstract | To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.
Retrospective case series.
Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings.
Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP.
The genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments.
•This is the largest series and longitudinal study in sector retinitis pigmentosa.•The genotypic spectrum of the disease is broader than previously reported.•The longitudinal data provided more accurate patient prognosis and counseling.•The study informed patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. |
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AbstractList | To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.PURPOSETo determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.Retrospective case series.DESIGNRetrospective case series.Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings.METHODSReview of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings.Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP.RESULTSTwenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP.The genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments.CONCLUSIONSThe genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. Retrospective case series. Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings. Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP. The genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. •This is the largest series and longitudinal study in sector retinitis pigmentosa.•The genotypic spectrum of the disease is broader than previously reported.•The longitudinal data provided more accurate patient prognosis and counseling.•The study informed patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. Retrospective case series. Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings. Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP. The genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. PurposeTo determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.DesignRetrospective case series.MethodsReview of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings.ResultsTwenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP.ConclusionsThe genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. • This is the largest series and longitudinal study in sector retinitis pigmentosa. • The genotypic spectrum of the disease is broader than previously reported. • The longitudinal data provided more accurate patient prognosis and counseling. • The study informed patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. |
Author | Georgiou, Michalis Webster, Andrew R. Fujinami, Kaoru Ali, Naser Alser, Muath Grewal, Parampal S. Narayan, Akshay Michaelides, Michel |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32795431$$D View this record in MEDLINE/PubMed |
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Cites_doi | 10.1097/IAE.0000000000002636 10.1523/JNEUROSCI.1655-14.2014 10.3390/ijms21010086 10.1093/hmg/ddh061 10.1001/archopht.1991.01080010086038 10.1038/s41433-018-0264-3 10.1001/archopht.1992.01080170068026 10.3390/ijms21030835 10.1007/978-3-030-27378-1_19 10.1016/S0002-9394(99)80100-7 10.1093/hmg/8.11.2121 10.1136/bjo.76.8.465 10.1136/jmedgenet-2011-100262 10.1136/bjophthalmol-2011-301134 10.1167/tvst.8.5.21 10.1097/IAE.0b013e31820d3fd1 10.3109/13816810.2014.958862 10.1136/bjophthalmol-2015-307698 10.1016/j.visres.2006.08.018 10.1016/S0161-6420(91)32046-3 10.1016/j.ajo.2019.01.027 10.1523/JNEUROSCI.4259-09.2009 10.3109/13816810.2014.924014 10.1159/000076109 10.1097/IAE.0000000000001965 10.1093/hmg/2.6.813 10.1016/S0161-6420(96)30458-2 10.1016/j.gene.2013.01.048 10.1167/iovs.05-0868 10.1016/S0161-6420(99)90342-1 10.1016/j.ophtha.2020.04.008 10.1016/j.preteyeres.2018.03.005 10.1074/jbc.M114.609958 10.1002/humu.23349 10.1016/S0021-5155(00)00286-0 10.3928/23258160-20160126-14 |
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References | Nakamachi, Nakamura, Fujii (bib20) 1998; 125 Tam, Noorwez, Kaushal (bib38) 2014; 34 Mastey, Gaffney, Litts (bib25) 2019; 8 Budu, Matsumoto, Hayasaka (bib13) 2000; 44 Sudharsan, Beltran (bib23) 2019; 1185 Schultz, Bhatti, Madeo (bib30) 2011; 48 Karali, Testa, Brunetti-Pierri (bib3) 2019; 21 Napier, Durga, Wolsley (bib15) 2015; 36 Bowne, Daiger, Hims (bib31) 1999; 8 Naash, Peachey, Li (bib36) 1996; 37 Tam, Moritz (bib37) 2009; 29 Nguyen, Talib, van Schooneveld (bib21) 2020; 21 Shah, Wong, Sharp, Vincent (bib16) 2014; 35 Stone, Kimura, Nichols (bib6) 1991; 98 Khateb, Mohand-Said, Nassisi (bib29) 2019; 40 Coussa, Basali, Maeda (bib4) 2019; 25 Ramon, Cordomi, Aguila (bib14) 2014; 289 Aherne, Kennan, Kenna (bib35) 2004; 13 Bietti (bib5) 1937 Al-Rashed, Abu Safieh, Alkuraya (bib32) 2012; 96 Branson, McClintic, Stamper (bib18) 2016; 47 Kranich, Bartkowski, Denton (bib11) 1993; 2 Rivera-De la Parra, Cabral-Macias, Matias-Florentino (bib12) 2013; 519 Heckenlively, Rodriguez, Daiger (bib8) 1991; 109 Tee, Smith, Hardcastle, Michaelides (bib22) 2016; 100 Sato, Oshika, Kaji, Nose (bib19) 2004; 36 Grover, Fishman, Anderson (bib7) 1999; 106 Moore, Fitzke, Kemp (bib10) 1992; 76 Verbakel, van Huet, Boon (bib1) 2018; 66 Xiao, Xu, Zhang (bib17) 2018; 33 Saihan, Stabej Ple, Robson (bib2) 2011; 31 Fishman, Stone, Gilbert, Sheffield (bib9) 1992; 110 Kalitzeos, Samra, Kasilian (bib26) 2019; 39 Nanda, McClements, Clouston (bib33) 2019; 202 Grover, Fishman, Alexander (bib27) 1996; 103 Bowne, Sullivan, Mortimer (bib34) 2006; 47 Pontikos, Arno, Jurkute (bib28) 2020; 127 Iannaccone, Man, Waseem (bib39) 2006; 46 Fiorentino, Fujinami, Arno (bib24) 2018; 39 Sato (10.1016/j.ajo.2020.08.004_bib19) 2004; 36 Tam (10.1016/j.ajo.2020.08.004_bib37) 2009; 29 Napier (10.1016/j.ajo.2020.08.004_bib15) 2015; 36 Mastey (10.1016/j.ajo.2020.08.004_bib25) 2019; 8 Nguyen (10.1016/j.ajo.2020.08.004_bib21) 2020; 21 Nakamachi (10.1016/j.ajo.2020.08.004_bib20) 1998; 125 Tee (10.1016/j.ajo.2020.08.004_bib22) 2016; 100 Verbakel (10.1016/j.ajo.2020.08.004_bib1) 2018; 66 Nanda (10.1016/j.ajo.2020.08.004_bib33) 2019; 202 Bietti (10.1016/j.ajo.2020.08.004_bib5) 1937 Budu (10.1016/j.ajo.2020.08.004_bib13) 2000; 44 Grover (10.1016/j.ajo.2020.08.004_bib7) 1999; 106 Fiorentino (10.1016/j.ajo.2020.08.004_bib24) 2018; 39 Kranich (10.1016/j.ajo.2020.08.004_bib11) 1993; 2 Bowne (10.1016/j.ajo.2020.08.004_bib34) 2006; 47 Branson (10.1016/j.ajo.2020.08.004_bib18) 2016; 47 Pontikos (10.1016/j.ajo.2020.08.004_bib28) 2020; 127 Fishman (10.1016/j.ajo.2020.08.004_bib9) 1992; 110 Tam (10.1016/j.ajo.2020.08.004_bib38) 2014; 34 Al-Rashed (10.1016/j.ajo.2020.08.004_bib32) 2012; 96 Iannaccone (10.1016/j.ajo.2020.08.004_bib39) 2006; 46 Aherne (10.1016/j.ajo.2020.08.004_bib35) 2004; 13 Shah (10.1016/j.ajo.2020.08.004_bib16) 2014; 35 Sudharsan (10.1016/j.ajo.2020.08.004_bib23) 2019; 1185 Ramon (10.1016/j.ajo.2020.08.004_bib14) 2014; 289 Schultz (10.1016/j.ajo.2020.08.004_bib30) 2011; 48 Heckenlively (10.1016/j.ajo.2020.08.004_bib8) 1991; 109 Rivera-De la Parra (10.1016/j.ajo.2020.08.004_bib12) 2013; 519 Coussa (10.1016/j.ajo.2020.08.004_bib4) 2019; 25 Moore (10.1016/j.ajo.2020.08.004_bib10) 1992; 76 Xiao (10.1016/j.ajo.2020.08.004_bib17) 2018; 33 Naash (10.1016/j.ajo.2020.08.004_bib36) 1996; 37 Khateb (10.1016/j.ajo.2020.08.004_bib29) 2019; 40 Stone (10.1016/j.ajo.2020.08.004_bib6) 1991; 98 Kalitzeos (10.1016/j.ajo.2020.08.004_bib26) 2019; 39 Grover (10.1016/j.ajo.2020.08.004_bib27) 1996; 103 Karali (10.1016/j.ajo.2020.08.004_bib3) 2019; 21 Bowne (10.1016/j.ajo.2020.08.004_bib31) 1999; 8 Saihan (10.1016/j.ajo.2020.08.004_bib2) 2011; 31 |
References_xml | – volume: 40 start-page: 1603 year: 2019 end-page: 1615 ident: bib29 article-title: Phenotypic characteristics of cone-rod dystrophy associated with MYO7A mutations in a large french cohort publication-title: Retina – volume: 8 start-page: 2121 year: 1999 end-page: 2128 ident: bib31 article-title: Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa publication-title: Hum Mol Genet – volume: 25 start-page: 869 year: 2019 end-page: 889 ident: bib4 article-title: Sector retinitis pigmentosa: Report of ten cases and a review of the literature publication-title: Mol Vis – volume: 519 start-page: 173 year: 2013 end-page: 176 ident: bib12 article-title: Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity publication-title: Gene – volume: 13 start-page: 641 year: 2004 end-page: 650 ident: bib35 article-title: On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa publication-title: Hum Mol Genet – volume: 39 start-page: 80 year: 2018 end-page: 91 ident: bib24 article-title: Missense variants in the X-linked gene publication-title: Hum Mutat – volume: 47 start-page: 34 year: 2006 end-page: 42 ident: bib34 article-title: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis publication-title: Invest Ophthalmol Vis Sci – volume: 35 start-page: 241 year: 2014 end-page: 247 ident: bib16 article-title: A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa publication-title: Ophthalmic Genet – volume: 21 start-page: 86 year: 2019 ident: bib3 article-title: Clinical and genetic analysis of a European cohort with pericentral retinitis pigmentosa publication-title: Int J Mol Sci – volume: 100 start-page: 1022 year: 2016 end-page: 1027 ident: bib22 article-title: RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options publication-title: Br J Ophthalmol – volume: 66 start-page: 157 year: 2018 end-page: 186 ident: bib1 article-title: Non-syndromic retinitis pigmentosa publication-title: Prog Retin Eye Res – volume: 127 start-page: 1384 year: 2020 end-page: 1394 ident: bib28 article-title: Genetic basis of inherited retinal disease in a molecularly characterised cohort of over 3000 families from the United Kingdom publication-title: Ophthalmology – volume: 21 start-page: 835 year: 2020 ident: bib21 article-title: RPGR-associated dystrophies: clinical, genetic, and histopathological features publication-title: Int J Mol Sci – volume: 125 start-page: 249 year: 1998 end-page: 251 ident: bib20 article-title: Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene publication-title: Am J Ophthalmol – volume: 31 start-page: 1708 year: 2011 end-page: 1716 ident: bib2 article-title: Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss publication-title: Retina – volume: 46 start-page: 4556 year: 2006 end-page: 4567 ident: bib39 article-title: Retinitis pigmentosa associated with rhodopsin mutations: correlation between phenotypic variability and molecular effects publication-title: Vision Res – volume: 39 start-page: 570 year: 2019 end-page: 580 ident: bib26 article-title: Cellular imaging of the tapetal-like reflex in carriers of RPGR-associated retinopathy publication-title: Retina – volume: 202 start-page: 23 year: 2019 end-page: 29 ident: bib33 article-title: The location of exon 4 mutations in rp1 raises challenges for genetic counseling and gene therapy publication-title: Am J Ophthalmol – volume: 106 start-page: 1780 year: 1999 end-page: 1785 ident: bib7 article-title: Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older publication-title: Ophthalmology – volume: 96 start-page: 1018 year: 2012 end-page: 1022 ident: bib32 article-title: RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism publication-title: Br J Ophthalmol – volume: 36 start-page: 43 year: 2004 end-page: 50 ident: bib19 article-title: A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa publication-title: Ophthalmic Res – start-page: 1159 year: 1937 end-page: 1244 ident: bib5 article-title: Su alcone forme atipiche o rare di degenerazione retinica (degenerazioni tappetoretiniche e quadri morbosi similari) publication-title: Boll Oculist – volume: 8 start-page: 21 year: 2019 ident: bib25 article-title: Assessing the interocular symmetry of foveal outer nuclear layer thickness in achromatopsia publication-title: Transl Vis Sci Technol – volume: 2 start-page: 813 year: 1993 end-page: 814 ident: bib11 article-title: Autosomal dominant “sector” retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin publication-title: Hum Mol Genet – volume: 110 start-page: 646 year: 1992 end-page: 653 ident: bib9 article-title: Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa publication-title: Arch Ophthalmol – volume: 289 start-page: 35918 year: 2014 end-page: 35928 ident: bib14 article-title: Differential light-induced responses in sectorial inherited retinal degeneration publication-title: J Biol Chem – volume: 98 start-page: 1806 year: 1991 end-page: 1813 ident: bib6 article-title: Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene publication-title: Ophthalmology – volume: 109 start-page: 84 year: 1991 end-page: 91 ident: bib8 article-title: Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin publication-title: Arch Ophthalmol – volume: 29 start-page: 15145 year: 2009 end-page: 15154 ident: bib37 article-title: The role of rhodopsin glycosylation in protein folding, trafficking, and light-sensitive retinal degeneration publication-title: J Neurosci – volume: 34 start-page: 13336 year: 2014 end-page: 13348 ident: bib38 article-title: Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa publication-title: J Neurosci – volume: 44 start-page: 610 year: 2000 end-page: 614 ident: bib13 article-title: Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa publication-title: Jpn J Ophthalmol – volume: 47 start-page: 183 year: 2016 end-page: 186 ident: bib18 article-title: Sector retinitis pigmentosa associated with novel compound heterozygous mutations of CDH23 publication-title: Ophthalmic Surg Lasers Imaging Retina – volume: 48 start-page: 767 year: 2011 end-page: 775 ident: bib30 article-title: Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes publication-title: J Med Genet – volume: 1185 start-page: 113 year: 2019 end-page: 118 ident: bib23 article-title: Progress in gene therapy for rhodopsin autosomal dominant retinitis pigmentosa publication-title: Adv Exp Med Biol – volume: 33 start-page: 592 year: 2018 end-page: 599 ident: bib17 article-title: Sector Retinitis Pigmentosa caused by mutations of the RHO gene publication-title: Eye (Lond) – volume: 37 start-page: 775 year: 1996 end-page: 782 ident: bib36 article-title: Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin publication-title: Invest Ophthalmol Vis Sci – volume: 103 start-page: 1593 year: 1996 end-page: 1600 ident: bib27 article-title: Visual acuity impairment in patients with retinitis pigmentosa publication-title: Ophthalmology – volume: 76 start-page: 465 year: 1992 end-page: 469 ident: bib10 article-title: Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation publication-title: Br J Ophthalmol – volume: 36 start-page: 239 year: 2015 end-page: 243 ident: bib15 article-title: Mutational analysis of the rhodopsin gene in sector retinitis pigmentosa publication-title: Ophthalmic Genet – volume: 40 start-page: 1603 year: 2019 ident: 10.1016/j.ajo.2020.08.004_bib29 article-title: Phenotypic characteristics of cone-rod dystrophy associated with MYO7A mutations in a large french cohort publication-title: Retina doi: 10.1097/IAE.0000000000002636 – volume: 34 start-page: 13336 issue: 40 year: 2014 ident: 10.1016/j.ajo.2020.08.004_bib38 article-title: Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa publication-title: J Neurosci doi: 10.1523/JNEUROSCI.1655-14.2014 – volume: 21 start-page: 86 issue: 1 year: 2019 ident: 10.1016/j.ajo.2020.08.004_bib3 article-title: Clinical and genetic analysis of a European cohort with pericentral retinitis pigmentosa publication-title: Int J Mol Sci doi: 10.3390/ijms21010086 – volume: 25 start-page: 869 year: 2019 ident: 10.1016/j.ajo.2020.08.004_bib4 article-title: Sector retinitis pigmentosa: Report of ten cases and a review of the literature publication-title: Mol Vis – volume: 13 start-page: 641 issue: 6 year: 2004 ident: 10.1016/j.ajo.2020.08.004_bib35 article-title: On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa publication-title: Hum Mol Genet doi: 10.1093/hmg/ddh061 – volume: 109 start-page: 84 issue: 1 year: 1991 ident: 10.1016/j.ajo.2020.08.004_bib8 article-title: Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin publication-title: Arch Ophthalmol doi: 10.1001/archopht.1991.01080010086038 – volume: 37 start-page: 775 issue: 5 year: 1996 ident: 10.1016/j.ajo.2020.08.004_bib36 article-title: Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin publication-title: Invest Ophthalmol Vis Sci – volume: 33 start-page: 592 year: 2018 ident: 10.1016/j.ajo.2020.08.004_bib17 article-title: Sector Retinitis Pigmentosa caused by mutations of the RHO gene publication-title: Eye (Lond) doi: 10.1038/s41433-018-0264-3 – volume: 110 start-page: 646 issue: 5 year: 1992 ident: 10.1016/j.ajo.2020.08.004_bib9 article-title: Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa publication-title: Arch Ophthalmol doi: 10.1001/archopht.1992.01080170068026 – volume: 21 start-page: 835 issue: 3 year: 2020 ident: 10.1016/j.ajo.2020.08.004_bib21 article-title: RPGR-associated dystrophies: clinical, genetic, and histopathological features publication-title: Int J Mol Sci doi: 10.3390/ijms21030835 – volume: 1185 start-page: 113 year: 2019 ident: 10.1016/j.ajo.2020.08.004_bib23 article-title: Progress in gene therapy for rhodopsin autosomal dominant retinitis pigmentosa publication-title: Adv Exp Med Biol doi: 10.1007/978-3-030-27378-1_19 – volume: 125 start-page: 249 issue: 2 year: 1998 ident: 10.1016/j.ajo.2020.08.004_bib20 article-title: Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene publication-title: Am J Ophthalmol doi: 10.1016/S0002-9394(99)80100-7 – volume: 8 start-page: 2121 issue: 11 year: 1999 ident: 10.1016/j.ajo.2020.08.004_bib31 article-title: Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa publication-title: Hum Mol Genet doi: 10.1093/hmg/8.11.2121 – volume: 76 start-page: 465 issue: 8 year: 1992 ident: 10.1016/j.ajo.2020.08.004_bib10 article-title: Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation publication-title: Br J Ophthalmol doi: 10.1136/bjo.76.8.465 – volume: 48 start-page: 767 issue: 11 year: 2011 ident: 10.1016/j.ajo.2020.08.004_bib30 article-title: Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes publication-title: J Med Genet doi: 10.1136/jmedgenet-2011-100262 – volume: 96 start-page: 1018 issue: 7 year: 2012 ident: 10.1016/j.ajo.2020.08.004_bib32 article-title: RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism publication-title: Br J Ophthalmol doi: 10.1136/bjophthalmol-2011-301134 – volume: 8 start-page: 21 issue: 5 year: 2019 ident: 10.1016/j.ajo.2020.08.004_bib25 article-title: Assessing the interocular symmetry of foveal outer nuclear layer thickness in achromatopsia publication-title: Transl Vis Sci Technol doi: 10.1167/tvst.8.5.21 – volume: 31 start-page: 1708 issue: 8 year: 2011 ident: 10.1016/j.ajo.2020.08.004_bib2 article-title: Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss publication-title: Retina doi: 10.1097/IAE.0b013e31820d3fd1 – volume: 36 start-page: 239 issue: 3 year: 2015 ident: 10.1016/j.ajo.2020.08.004_bib15 article-title: Mutational analysis of the rhodopsin gene in sector retinitis pigmentosa publication-title: Ophthalmic Genet doi: 10.3109/13816810.2014.958862 – volume: 100 start-page: 1022 issue: 8 year: 2016 ident: 10.1016/j.ajo.2020.08.004_bib22 article-title: RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options publication-title: Br J Ophthalmol doi: 10.1136/bjophthalmol-2015-307698 – volume: 46 start-page: 4556 issue: 27 year: 2006 ident: 10.1016/j.ajo.2020.08.004_bib39 article-title: Retinitis pigmentosa associated with rhodopsin mutations: correlation between phenotypic variability and molecular effects publication-title: Vision Res doi: 10.1016/j.visres.2006.08.018 – volume: 98 start-page: 1806 issue: 12 year: 1991 ident: 10.1016/j.ajo.2020.08.004_bib6 article-title: Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene publication-title: Ophthalmology doi: 10.1016/S0161-6420(91)32046-3 – volume: 202 start-page: 23 year: 2019 ident: 10.1016/j.ajo.2020.08.004_bib33 article-title: The location of exon 4 mutations in rp1 raises challenges for genetic counseling and gene therapy publication-title: Am J Ophthalmol doi: 10.1016/j.ajo.2019.01.027 – volume: 29 start-page: 15145 issue: 48 year: 2009 ident: 10.1016/j.ajo.2020.08.004_bib37 article-title: The role of rhodopsin glycosylation in protein folding, trafficking, and light-sensitive retinal degeneration publication-title: J Neurosci doi: 10.1523/JNEUROSCI.4259-09.2009 – volume: 35 start-page: 241 issue: 4 year: 2014 ident: 10.1016/j.ajo.2020.08.004_bib16 article-title: A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa publication-title: Ophthalmic Genet doi: 10.3109/13816810.2014.924014 – volume: 36 start-page: 43 issue: 1 year: 2004 ident: 10.1016/j.ajo.2020.08.004_bib19 article-title: A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa publication-title: Ophthalmic Res doi: 10.1159/000076109 – volume: 39 start-page: 570 issue: 3 year: 2019 ident: 10.1016/j.ajo.2020.08.004_bib26 article-title: Cellular imaging of the tapetal-like reflex in carriers of RPGR-associated retinopathy publication-title: Retina doi: 10.1097/IAE.0000000000001965 – volume: 2 start-page: 813 issue: 6 year: 1993 ident: 10.1016/j.ajo.2020.08.004_bib11 article-title: Autosomal dominant “sector” retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin publication-title: Hum Mol Genet doi: 10.1093/hmg/2.6.813 – volume: 103 start-page: 1593 issue: 10 year: 1996 ident: 10.1016/j.ajo.2020.08.004_bib27 article-title: Visual acuity impairment in patients with retinitis pigmentosa publication-title: Ophthalmology doi: 10.1016/S0161-6420(96)30458-2 – volume: 519 start-page: 173 issue: 1 year: 2013 ident: 10.1016/j.ajo.2020.08.004_bib12 article-title: Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity publication-title: Gene doi: 10.1016/j.gene.2013.01.048 – start-page: 1159 year: 1937 ident: 10.1016/j.ajo.2020.08.004_bib5 article-title: Su alcone forme atipiche o rare di degenerazione retinica (degenerazioni tappetoretiniche e quadri morbosi similari) publication-title: Boll Oculist – volume: 47 start-page: 34 issue: 1 year: 2006 ident: 10.1016/j.ajo.2020.08.004_bib34 article-title: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis publication-title: Invest Ophthalmol Vis Sci doi: 10.1167/iovs.05-0868 – volume: 106 start-page: 1780 issue: 9 year: 1999 ident: 10.1016/j.ajo.2020.08.004_bib7 article-title: Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older publication-title: Ophthalmology doi: 10.1016/S0161-6420(99)90342-1 – volume: 127 start-page: 1384 year: 2020 ident: 10.1016/j.ajo.2020.08.004_bib28 article-title: Genetic basis of inherited retinal disease in a molecularly characterised cohort of over 3000 families from the United Kingdom publication-title: Ophthalmology doi: 10.1016/j.ophtha.2020.04.008 – volume: 66 start-page: 157 year: 2018 ident: 10.1016/j.ajo.2020.08.004_bib1 article-title: Non-syndromic retinitis pigmentosa publication-title: Prog Retin Eye Res doi: 10.1016/j.preteyeres.2018.03.005 – volume: 289 start-page: 35918 issue: 52 year: 2014 ident: 10.1016/j.ajo.2020.08.004_bib14 article-title: Differential light-induced responses in sectorial inherited retinal degeneration publication-title: J Biol Chem doi: 10.1074/jbc.M114.609958 – volume: 39 start-page: 80 issue: 1 year: 2018 ident: 10.1016/j.ajo.2020.08.004_bib24 article-title: Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females publication-title: Hum Mutat doi: 10.1002/humu.23349 – volume: 44 start-page: 610 issue: 6 year: 2000 ident: 10.1016/j.ajo.2020.08.004_bib13 article-title: Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa publication-title: Jpn J Ophthalmol doi: 10.1016/S0021-5155(00)00286-0 – volume: 47 start-page: 183 issue: 2 year: 2016 ident: 10.1016/j.ajo.2020.08.004_bib18 article-title: Sector retinitis pigmentosa associated with novel compound heterozygous mutations of CDH23 publication-title: Ophthalmic Surg Lasers Imaging Retina doi: 10.3928/23258160-20160126-14 |
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Snippet | To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.
Retrospective case series.
Review... PurposeTo determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.DesignRetrospective case... To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.PURPOSETo determine the genetic... • This is the largest series and longitudinal study in sector retinitis pigmentosa. • The genotypic spectrum of the disease is broader than previously... |
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SubjectTerms | Adolescent Adult Age Aged Aged, 80 and over Asymmetry Cataracts Disease DNA Mutational Analysis Electroretinography Eye Proteins - genetics Female Fluorescein Angiography Genes Genetic Association Studies Genetics Humans Male Middle Aged Molecular Biology Natural history Original Patients Pedigree Retina Retina - physiopathology Retinitis Pigmentosa - diagnosis Retinitis Pigmentosa - genetics Retinitis Pigmentosa - physiopathology Retrospective Studies Symmetry Tomography, Optical Coherence Visual Acuity - physiology Visual Field Tests Visual Fields - physiology Young Adult |
Title | Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History |
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