Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Adult
Aged
Dark Adaptation
/ physiology
Electroretinography
Female
High-Throughput Nucleotide Sequencing
Humans
Italy
/ epidemiology
Male
Middle Aged
Pedigree
Phenotype
Refraction, Ocular
/ physiology
Retina
/ physiopathology
Retinitis Pigmentosa
/ diagnosis
Retrospective Studies
Rhodopsin
/ genetics
Tomography, Optical Coherence
Visual Acuity
/ physiology
Visual Field Tests
Visual Fields
/ physiology
Young Adult
Journal
Molecular vision
ISSN: 1090-0535
Titre abrégé: Mol Vis
Pays: United States
ID NLM: 9605351
Informations de publication
Date de publication:
2021
2021
Historique:
received:
01
05
2020
accepted:
03
02
2021
entrez:
10
3
2021
pubmed:
11
3
2021
medline:
6
11
2021
Statut:
epublish
Résumé
To describe clinical and genetic features in a series of Italian patients with sector retinitis pigmentosa (sector RP). Fifteen patients with sector RP were selected from the database of Hereditary Retinal Degenerations Referring Center of Careggi Hospital (Florence, Italy). Eleven patients from five independent pedigrees underwent genetic analysis with next-generation sequencing (NGS) confirmed with Sanger sequencing. The diagnosis of sector RP was based on the detection of topographically limited retinal abnormalities consistent with corresponding sectorial visual field defects. Best-corrected visual acuity (BCVA), fundus color pictures as well as fundus autofluorescence (FAF), spectral domain-optical coherence tomography (SD-OCT), full-field electroretinography (ERG), and 30-2 Humphrey visual field (VF) data were retrospectively collected and analyzed. For the 30 eyes, the mean BCVA was 0.05 ± 0.13 logMAR, and the mean refractive error was -0.52 ± 1.89 D. The inferior retina was the most affected sector (86.7%), and the VF defect corresponded to the affected sector. FAF showed a demarcation line of increased autofluorescence between the healthy and affected retina, corresponding on SD-OCT to an interruption of the ellipsoid zone (EZ) band in the diseased retina. Dark-adapted ERG amplitudes were decreased in comparison to normative values. In five unrelated families, the sector RP phenotype was associated with sequence variants in the Typical sector RP is a mild form of RP characterized by preserved visual acuity with limited retinal involvement and, generally, a more favorable prognosis than other forms of RP.
Substances chimiques
Rhodopsin
9009-81-8
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
78-94Subventions
Organisme : NIA NIH HHS
ID : R21 AG050437
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY018213
Pays : United States
Organisme : NEI NIH HHS
ID : U01 EY030580
Pays : United States
Organisme : NIH HHS
ID : U54 OD020351
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY009076
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY026682
Pays : United States
Organisme : NEI NIH HHS
ID : R24 EY027285
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA013696
Pays : United States
Organisme : NEI NIH HHS
ID : R24 EY028758
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY024698
Pays : United States
Organisme : NEI NIH HHS
ID : P30 EY019007
Pays : United States
Informations de copyright
Copyright © 2021 Molecular Vision.
Références
Int Ophthalmol. 2020 Mar;40(3):703-708
pubmed: 31758507
Arch Ophthalmol. 2002 Nov;120(11):1566-71
pubmed: 12427073
Ophthalmic Genet. 2014 Dec;35(4):241-7
pubmed: 24918165
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Arch Ophthalmol. 1991 Jan;109(1):84-91
pubmed: 1987955
Arch Ophthalmol. 1979 Oct;97(10):1899-904
pubmed: 485914
Br J Ophthalmol. 2006 Apr;90(4):472-9
pubmed: 16547330
Eye (Lond). 2019 Apr;33(4):592-599
pubmed: 30390055
Am J Ophthalmol. 2008 Apr;145(4):687-94
pubmed: 18242574
Mol Vis. 2012;18:2398-410
pubmed: 23049240
Gene. 2013 Apr 25;519(1):173-6
pubmed: 23402891
Ophthalmic Surg Lasers Imaging Retina. 2016 Feb;47(2):183-6
pubmed: 26878454
Hum Mol Genet. 1995 Oct;4(10):1895-902
pubmed: 8595413
Proc Natl Acad Sci U S A. 1998 Jun 9;95(12):7103-8
pubmed: 9618546
Arch Ophthalmol. 2008 Oct;126(10):1461-3
pubmed: 18852430
Ophthalmology. 1996 Oct;103(10):1593-600
pubmed: 8874431
Eye (Lond). 2009 Mar;23(3):567-75
pubmed: 18344954
Int J Mol Sci. 2020 Jan 28;21(3):
pubmed: 32012938
Jpn J Ophthalmol. 1987;31(3):327-48
pubmed: 2448510
Arch Ophthalmol. 1985 Apr;103(4):524-8
pubmed: 3985831
Arch Ophthalmol. 1993 Jun;111(6):831-6
pubmed: 8512486
Ophthalmic Res. 2004 Jan-Feb;36(1):43-50
pubmed: 15007239
Graefes Arch Clin Exp Ophthalmol. 2005 Oct;243(10):1018-27
pubmed: 15906064
Arch Ophthalmol. 2007 Jun;125(6):759-64
pubmed: 17562986
Med Hypotheses. 2003 May;60(5):644-9
pubmed: 12710896
Ophthalmic Surg Lasers Imaging Retina. 2014 Sep-Oct;45(5):469-473
pubmed: 25215869
Doc Ophthalmol. 2015 Feb;130(1):1-12
pubmed: 25502644
Case Rep Ophthalmol Med. 2013;2013:156023
pubmed: 23781365
J Ophthalmol. 2014;2014:210947
pubmed: 25485142
Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1662-74
pubmed: 8675410
Am J Ophthalmol. 1970 Jun;69(6):977-87
pubmed: 5423778
Ophthalmologica. 1973;166(5):327-41
pubmed: 4730724
Genomics. 1991 Sep;11(1):199-205
pubmed: 1765377
Ophthalmic Genet. 2015;36(3):239-43
pubmed: 25265376
Hum Genet. 1997 Jun;99(6):827-30
pubmed: 9187681
Retina. 2011 Sep;31(8):1708-16
pubmed: 21487335
Int J Retina Vitreous. 2017 Sep 11;3:33
pubmed: 28912962
Lancet. 2006 Nov 18;368(9549):1795-809
pubmed: 17113430
Retina. 2006 Feb;26(2):248-50
pubmed: 16467695
Curr Eye Res. 2008 Nov;33(11):1014-22
pubmed: 19085385
Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4847-4858
pubmed: 27654411
J Med Genet. 2006 Nov;43(11):e55
pubmed: 17085681
Am J Ophthalmol. 1998 Feb;125(2):249-51
pubmed: 9467455
Invest Ophthalmol Vis Sci. 2013 Oct 17;54(10):6820-6
pubmed: 24071957
J Biol Chem. 2014 Dec 26;289(52):35918-28
pubmed: 25359768
Genomics. 1995 May 20;27(2):384-6
pubmed: 7558016
Retina. 2009 Jul-Aug;29(7):1025-31
pubmed: 19584660
Mol Vis. 2019 Dec 30;25:869-889
pubmed: 31908405
Arch Ophthalmol. 1993 Nov;111(11):1512-7
pubmed: 8240107
Exp Eye Res. 2019 Nov;188:107726
pubmed: 31319082
Acta Ophthalmol. 2010 Aug;88(5):e177-83
pubmed: 20491687