skip to main content
Language:
Search Limited to: Search Limited to: Resource type Show Results with: Show Results with: Search type Index

Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations

Arquivos brasileiros de oftalmologia, 2023-01, Vol.86 (1), p.74 [Peer Reviewed Journal]

This work is licensed under a Creative Commons Attribution 4.0 International License. ;ISSN: 0004-2749 ;ISSN: 1678-2925 ;EISSN: 1678-2925 ;DOI: 10.5935/0004-2749.20220078 ;PMID: 35170635

Full text available

Citations Cited by
  • Title:
    Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations
  • Author: Abe, Ricardo Yuji ; Makarczyk, Luciana de Sá Quirino ; Ávila, Marcos Pereira de ; Sallum, Juliana Maria Ferraz
  • Subjects: Adolescent ; Eye Proteins - genetics ; Glaucoma, Angle-Closure - genetics ; Glaucoma, Angle-Closure - surgery ; Humans ; Membrane Proteins ; Nerve Tissue Proteins ; OPHTHALMOLOGY ; Retinitis Pigmentosa - complications ; Retinitis Pigmentosa - genetics
  • Is Part Of: Arquivos brasileiros de oftalmologia, 2023-01, Vol.86 (1), p.74
  • Description: We describe the case of a 15-year-old girl with decreased visual acuity associated with elevated intraocular pressure in both eyes and angle closure on gonioscopy. She also presented attenuation of retinal vessels and optic disc pallor with large excavation in the left eye. Ultrasound biomicroscopy revealed an anteriorly positioned ciliary body and absence of ciliary sulcus, confirming the plateau iris configuration. Spectral-domain optical coherence tomography revealed a bilateral cystoid macular edema. Genetic screening revealed heterozygous variants of the Crumbs homolog 1 (CRB1) gene (c.2843G>A and c.2506C>A). The patient underwent trabeculectomy for intraocular pressure control and topical treatment for macular edema. This case highlights the importance of performing gonioscopy and evaluating intraocular pressure in patients with a shallow anterior chamber despite young age. In addition, it also shows the importance of genetic screening, when available, in elucidating the diagnosis and providing patients and their families' information on the patient's prognosis and possible therapeutic options.
  • Publisher: Brazil: Conselho Brasileiro de Oftalmologia
  • Language: English;Portuguese
  • Identifier: ISSN: 0004-2749
    ISSN: 1678-2925
    EISSN: 1678-2925
    DOI: 10.5935/0004-2749.20220078
    PMID: 35170635
  • Source: IngentaConnect Free/Open Access Journals
    SciELO
    GFMER Free Medical Journals
    MEDLINE
Back to results list
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY (84-028) 37 755 057 Feedback
19 Nguyen Huu Tho St. Dist.7, HCM thuvien@tdtu.edu.vn

Copyright © 2017 INSPIRE LIBRARY - TON DUC THANG UNIVERSITY

Searching Remote Databases, Please Wait