ArticlePloS one2016
A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus).
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 55 citations in OpenAlex.
- Clinical Features and Surgical Outcomes of Cats With Presumed Primary Lens Instability: A Retrospective Study of 34 Cases (2018-2022).Veterinary ophthalmology · 2026Article
- Treatment rationales and outcomes for cats with lens luxation: 136 eyes (2007-2023).Journal of feline medicine and surgery · 2026Article
- Topical Omidenepag Isopropyl Lowers Intraocular Pressure in Normal and Glaucomatous Cats: A Pilot Study.Veterinary ophthalmology · 2026Article
- Comparison of Rebound and Applanation Tonometry in Eyes With Focal Corneal Edema.Veterinary ophthalmology · 2026Article
- Effects of 0.024% latanoprostene bunod on intraocular pressure and pupil diameter in normal cats and cats with congenital glaucoma.Veterinary ophthalmology · 2026Article
- The Effects of SNPs in theVeterinary medicine international · 2026Article
- Intravitreal AAV2 gene delivery to feline retinal ganglion cells.Vision research · 2025Article
- Trabecular Meshwork Abnormalities in a Model of Congenital Glaucoma Due to LTBP2 Mutation.Investigative ophthalmology & visual science · 2024Article
- Effects of Telmisartan on Intraocular Pressure, Blood Pressure, and Ocular Perfusion Pressure in Normal and Glaucomatous Cats.Translational vision science & technology · 2024Article
- Retinal ganglion cell repopulation for vision restoration in optic neuropathy: a roadmap from the RReSTORe Consortium.Molecular neurodegeneration · 2023Review
- Comparison of the TONOVET Plus®, TonoVet®, and Tono-Pen Vet™ tonometers in normal cats and cats with glaucoma.Veterinary ophthalmology · 2023Article
- Aqueous Humor TGF-β2 and Its Association With Intraocular Pressure in a Naturally Occurring Large Animal Model of Glaucoma.Investigative ophthalmology & visual science · 2023Article
- Epidemiology and clinical presentation of feline presumed hereditary or breed-related ocular diseases in France: retrospective study of 129 cats.Journal of feline medicine and surgery · 2022Article
- A novel glaucoma approach: Stem cell regeneration of the trabecular meshwork.Progress in retinal and eye research · 2022Review
- Fibrillin-1 mutant mouse captures defining features of human primary open glaucoma including anomalous aqueous humor TGF beta-2.Scientific reports · 2022Article
- Outer retinal thickness and visibility of the choriocapillaris in four distinct retinal regions imaged with spectral domain optical coherence tomography in dogs and cats.Veterinary ophthalmology · 2022Article
- Pathogenesis of glaucoma: Extracellular matrix dysfunction in the trabecular meshwork-A review.Clinical & experimental ophthalmology · 2022Review
- Animal Model Contributions to Primary Congenital Glaucoma.Journal of ophthalmology · 2022Review
- Diffusion Tensor Imaging of Visual Pathway Abnormalities in Five Glaucoma Animal Models.Investigative ophthalmology & visual science · 2021Article
- Mapping retinal ganglion cell somas in a large-eyed glaucoma model.Molecular vision · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
The glaucomas are a group of diseases characterized by optic nerve damage that together represent a leading cause of blindness in the human population and in domestic animals. Here we report a mutation in LTBP2 that causes primary congenital glaucoma (PCG) in domestic cats. We identified a spontaneous form of PCG in cats and established a breeding colony segregating for PCG consistent with fully penetrant, autosomal recessive inheritance of the trait. Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age. Varying degrees of optic nerve damage resulted by 6 months of age. Although subtle lens zonular instability was a common feature in this cohort, pronounced ectopia lentis was identified in less than 10% of cats examined. Thus, glaucoma in this pedigree is attributed to histologically confirmed arrest in the early post-natal development of the aqueous humor outflow pathways in the anterior segment of the eyes of affected animals. Using a candidate gene approach, significant linkage was established on cat chromosome B3 (LOD 18.38, θ = 0.00) using tightly linked short tandem repeat (STR) loci to the candidate gene, LTBP2. A 4 base-pair insertion was identified in exon 8 of LTBP2 in affected individuals that generates a frame shift that completely alters the downstream open reading frame and eliminates functional domains. Thus, we describe the first spontaneous and highly penetrant non-rodent model of PCG identifying a valuable animal model for primary glaucoma that closely resembles the human disease, providing valuable insights into mechanisms underlying the disease and a valuable animal model for testing therapies.
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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.