Objectives: This study aimed to describe the epidemiology and clinical presentation of presumed hereditary or presumed breed-related ocular diseases in a population of cats in France.
Methods: Medical records from between September 2013 and August 2017 were reviewed to identify cats with at least one presumed hereditary or breed-related ocular disease. Cats with concurrent, or a history of, ocular or systemic infectious diseases were excluded. Signalment, history and clinical findings were recorded.
Results: Of the 1161 cats that presented to our institution during the study period, 129 were diagnosed with at least one presumed hereditary or presumed breed-related ocular disease (11.1%, 95% confidence interval [CI] 9.3-12.9). Five ocular abnormalities had a prevalence of >1%: entropion, corneal sequestration, persistent pupillary membrane, cataract and retinal dysplasia. The prevalence of entropion was 2.2% (95% CI 1.3-3.0), with Persians ( = 0.03), Maine Coons ( <0.01) and male cats ( <0.01) being over-represented. The prevalence of corneal sequestration was 2.4% (95% CI 1.5-3.3), with Persians ( <0.01) and Exotic Shorthairs ( = 0.02) being over-represented. Persistent pupillary membranes and cataracts had the same prevalence of 2.3% (95% CI 1.5-3.2), with no particular sex or breed significantly over-represented. Retinal dysplasia had a prevalence of 1.6% (95% CI 0.8-2.3) and Persian cats were over-represented ( = 0.04). Anterior segment dysgenesis had a low prevalence (0.9%, 95% CI 0.4-1.5), with all affected cats being domestic shorthairs and this breed therefore was over-represented ( = 0.04).
Conclusions And Relevance: In a French population of cats, presumed hereditary or breed-related ocular diseases accounted for 11.1% of all ocular diseases. Cataracts, corneal sequestration, persistent pupillary membrane, entropion and retinal dysplasia were the most common conditions. Statistical breed over-representation was observed for entropion, corneal sequestration and retinal dysplasia. We recommend that more systematic screening of feline species is conducted.
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http://dx.doi.org/10.1177/1098612X221080598 | DOI Listing |
Electrophoresis
January 2025
Department of Medical Chemistry and Clinical Biochemistry, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Hemoglobinopathies, hereditary disorders affecting the structure or production of hemoglobin, were detected by routine HbA measurements by capillary electrophoresis (CE) at the University Hospital Motol, Prague. The potential of ultraviolet-visible (UV-Vis) and Fourier-transform infrared (FTIR) spectroscopy for the detection and characterization of hemoglobinopathies was investigated. FTIR spectra were recorded with a very high resolution (0.
View Article and Find Full Text PDFClin Genet
December 2024
IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with HSP, but many families remain without a molecular diagnosis. In this study, linkage analysis and whole-exome sequencing (WES) were performed to identify the causal gene in a HSP family with autosomal recessive inheritance.
View Article and Find Full Text PDFCase Rep Ophthalmol Med
November 2024
Molecular Biology Laboratory, IRCCS Istituto Auxologico Italiano, Milan, Italy.
We describe a patient affected by congenital stationary night blindness (CSNB) secondary to CACNA1F and optic neuropathy associated with an AFG3L2 variant. We performed comprehensive neuro-ophthalmologic examinations, retinal imaging, complete ocular electrophysiology, and brain and optic nerve MRI. Genomic DNA was extracted from the peripheral blood.
View Article and Find Full Text PDFFront Genet
October 2024
Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
J Thromb Haemost
October 2024
Indiana Hemophilia & Thrombosis Center, Indianapolis, Indiana, USA.
Background: Hereditary hemorrhagic telangiectasia (HHT) is a bleeding disorder characterized by arteriovenous malformations, commonly presenting with epistaxis and gastrointestinal (GI) bleeding. Bleeding symptoms may be difficult to manage and may become life-threatening, with many patients developing dependence on parenteral iron and/or blood transfusion. There is a growing body of evidence that antiangiogenic therapies may be effective in management of bleeding symptoms, presumably targeting pathogenic HHT pathways such as vascular endothelial growth factor receptor.
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