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 inAmerican journal of ophthalmology Vol. 221; pp. 299 - 310
Main Authors Georgiou, Michalis, Grewal, Parampal S., Narayan, Akshay, Alser, Muath, Ali, Naser, Fujinami, Kaoru, Webster, Andrew R., Michaelides, Michel
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.01.2021
Elsevier Limited
Elsevier Science
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Online AccessGet full text
ISSN0002-9394
1879-1891
1879-1891
DOI10.1016/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.
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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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
URI https://www.clinicalkey.com/#!/content/1-s2.0-S0002939420304232
https://dx.doi.org/10.1016/j.ajo.2020.08.004
https://www.ncbi.nlm.nih.gov/pubmed/32795431
https://www.proquest.com/docview/2468239466
https://www.proquest.com/docview/2434472643
https://pubmed.ncbi.nlm.nih.gov/PMC7772805
Volume 221
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