Bilateral angle closure glaucoma with retinitis pigmentosa in young patients: case series.
Primary angle closure glaucoma
Retinitis pigmentosa
ZNF408
Journal
BMC ophthalmology
ISSN: 1471-2415
Titre abrégé: BMC Ophthalmol
Pays: England
ID NLM: 100967802
Informations de publication
Date de publication:
15 Nov 2023
15 Nov 2023
Historique:
received:
28
05
2023
accepted:
27
10
2023
medline:
17
11
2023
pubmed:
16
11
2023
entrez:
16
11
2023
Statut:
epublish
Résumé
To report the ocular characteristics and management of three cases of retinitis pigmentosa (RP) concurrent primary angle closure glaucoma (PACG). Three middle-aged patients presenting with diminished vision, high intraocular pressure (IOP), and typical fundus manifestations of RP were clinically evaluated. The individualized treatment was based on the ocular conditions of each case. A novel genetic alteration in ZNF408 was identified in one patient. Two patients with short-axial eyes received unilateral combined trabeculectomy, cataract surgery, and Irido-zonulo-hyaloid-vitrectomy. One of them had a subluxated lens, managed with a capsular tension ring implantation. Their contralateral eyes, respectively, underwent laser peripheral iridotomy (LPI) and transscleral cyclophotocoagulation. The third patient underwent bilaterally combined laser peripheral iridoplasty, LPI, and medication. Ultimately, all patients achieved the target IOP during a two-year follow-up. Young patients with RP may have a risk of developing angle closure glaucoma, and conversely, patients with angle closure glaucoma at younger age should be aware of the presence of RP. Therefore, routine gonioscopy and IOP monitoring are required for RP patients, and detailed fundus examinations are warranted for young PACG patients.
Sections du résumé
BACKGROUND
BACKGROUND
To report the ocular characteristics and management of three cases of retinitis pigmentosa (RP) concurrent primary angle closure glaucoma (PACG).
CASE PRESENTATION
METHODS
Three middle-aged patients presenting with diminished vision, high intraocular pressure (IOP), and typical fundus manifestations of RP were clinically evaluated. The individualized treatment was based on the ocular conditions of each case. A novel genetic alteration in ZNF408 was identified in one patient. Two patients with short-axial eyes received unilateral combined trabeculectomy, cataract surgery, and Irido-zonulo-hyaloid-vitrectomy. One of them had a subluxated lens, managed with a capsular tension ring implantation. Their contralateral eyes, respectively, underwent laser peripheral iridotomy (LPI) and transscleral cyclophotocoagulation. The third patient underwent bilaterally combined laser peripheral iridoplasty, LPI, and medication. Ultimately, all patients achieved the target IOP during a two-year follow-up.
CONCLUSION
CONCLUSIONS
Young patients with RP may have a risk of developing angle closure glaucoma, and conversely, patients with angle closure glaucoma at younger age should be aware of the presence of RP. Therefore, routine gonioscopy and IOP monitoring are required for RP patients, and detailed fundus examinations are warranted for young PACG patients.
Identifiants
pubmed: 37968604
doi: 10.1186/s12886-023-03190-y
pii: 10.1186/s12886-023-03190-y
pmc: PMC10648655
doi:
Substances chimiques
ZNF408 protein, human
0
DNA-Binding Proteins
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
458Subventions
Organisme : Chongqing Science and Technology Commission of China
ID : cstc2020jcyj-msxmX1097
Informations de copyright
© 2023. The Author(s).
Références
Zhonghua Yan Ke Za Zhi. 1991 Sep;27(5):262-4
pubmed: 1815915
Surv Ophthalmol. 2018 Nov - Dec;63(6):769-781
pubmed: 29551596
Br J Ophthalmol. 2001 Aug;85(8):936-8
pubmed: 11466249
PLoS One. 2017 Jan 5;12(1):e0169395
pubmed: 28056057
J Ophthalmol. 2017;2017:9164846
pubmed: 29464115
Acta Ophthalmol. 2021 Feb;99(1):e134-e135
pubmed: 32453498
Graefes Arch Clin Exp Ophthalmol. 2021 Aug;259(8):2379-2387
pubmed: 33876278
Semin Ophthalmol. 2013 Sep-Nov;28(5-6):397-405
pubmed: 24138049
Front Med (Lausanne). 2021 Jan 18;7:624179
pubmed: 33537335
Br J Ophthalmol. 2000 Apr;84(4):364-71
pubmed: 10729292
Mol Vis. 2012;18:2447-53
pubmed: 23077403
J Child Neurol. 2009 Sep;24(9):1147-57
pubmed: 19605772
Lancet. 2006 Nov 18;368(9549):1795-809
pubmed: 17113430
J Glaucoma. 2003 Apr;12(2):167-80
pubmed: 12671473
PLoS One. 2022 Sep 9;17(9):e0274066
pubmed: 36083972
Chin Med J (Engl). 2011 Apr;124(8):1270-4
pubmed: 21543011
Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61
pubmed: 23716654
Arch Ophthalmol. 1962 Sep;68:353-9
pubmed: 13878036
Eur J Ophthalmol. 2006 Nov-Dec;16(6):865-6
pubmed: 17191195
Ophthalmology. 2015 May;122(5):903-8
pubmed: 25601536
Prog Retin Eye Res. 2012 Sep;31(5):351-76
pubmed: 22561546
Am J Med Genet A. 2011 May;155A(5):1001-6
pubmed: 21484995
J Cell Physiol. 2019 Aug;234(8):14100-14108
pubmed: 30635925
Curr Eye Res. 2022 Sep;47(9):1339-1345
pubmed: 35924323
Am J Ophthalmol. 2023 Aug 3;:
pubmed: 37543298
Case Rep Ophthalmol Med. 2020 May 29;2020:6023586
pubmed: 32551144
Exp Eye Res. 2020 Aug;197:108118
pubmed: 32562694
J Biol Chem. 2010 Jul 2;285(27):20423-7
pubmed: 20430897
Int Ophthalmol. 2021 Sep;41(9):3087-3097
pubmed: 33905050
Acta Ophthalmol (Copenh). 1993 Dec;71(6):727-32
pubmed: 8154244
Indian J Ophthalmol. 2022 Jul;70(7):2449-2451
pubmed: 35791130
Eye (Lond). 2019 Apr;33(4):592-599
pubmed: 30390055
Science. 1995 Mar 24;267(5205):1788-92
pubmed: 7892602
Nature. 1990 Jan 25;343(6256):364-6
pubmed: 2137202
PLoS One. 2014 Sep 15;9(9):e107660
pubmed: 25222486
BMJ Open. 2013 Apr 26;3(4):
pubmed: 23624990
BMC Ophthalmol. 2021 Jan 18;21(1):43
pubmed: 33461530
Hum Mol Genet. 2015 Jul 15;24(14):4037-48
pubmed: 25882705