ArticleMolecular vision2014
Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.Acta ophthalmologica · 2022Pooled it
- A New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction.International journal of molecular sciences · 2026Review
- 'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta.Orphanet journal of rare diseases · 2024Article
- Corneal Alterations in Patients with Osteogenesis Imperfecta: An in vivo Corneal Confocal Microscopy Study.Clinical ophthalmology (Auckland, N.Z.) · 2024Article
- Keratoconus tomographic indices in osteogenesis imperfecta.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen Defect.Translational vision science & technology · 2023Article
- Macular neovascularisation in a patient with osteogenesis imperfecta exhibiting a novelBMJ case reports · 2022Article
- Spontaneous reshaping of vertebral fractures in an adolescent with osteogenesis imperfecta.Bone reports · 2022Article
- Abnormal corneal properties in osteogenesis imperfecta and glaucoma: a case series.BMJ open ophthalmology · 2021Article
- Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.Frontiers in pharmacology · 2019Article
- PITX2 deficiency and associated human disease: insights from the zebrafish model.Human molecular genetics · 2018Article
- Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.Orphanet journal of rare diseases · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
purposeOsteogenesis imperfecta (OI) is a group of inherited disorders characterized by bone fragility. Ocular findings include blue sclera, low ocular rigidity, and thin corneal thickness. However, there are no documented cases linking OI and primary open angle glaucoma (POAG). In this report, we describe three individuals, one isolated case and two from a multiplex family, with OI type I and POAG.
methodsAvailable family members with OI and POAG had a complete eye examination, including visual acuity, intraocular pressure (IOP), pachymetry, slit-lamp exam, dilated fundus exam, and visual fields. DNA from blood samples was sequenced and screened for mutations in COL1A1/2 and myocilin (MYOC).
resultsAll subjects had OI type I. Findings of POAG included elevated IOP, normal gonioscopy, and glaucomatous optic disc cupping and visual field loss. POAG cosegregated with OI in the multiplex family. The multiplex family had a single nucleotide insertion (c.540_541insC) in COL1A1 resulting in a frameshift mutation and a premature termination codon. The sporadic case had a COL1A1 splice acceptor site mutation (c.2452-2A>T or IVS36-2A>T) predicted to result in a premature termination codon due to intron inclusion or a cryptic splice site. None of the glaucoma cases had mutations or sequence changes in MYOC.
conclusionsWe identified two novel mutations in COL1A1 in individuals with OI type I and POAG. Thus, some mutations in COL1A1 may be causative for OI and POAG. Alternatively, susceptibility genes may interact with mutations in COL1A1 to cause POAG.
Indexed as
Identifiers
25324685PMC4153423W2110835652What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.