Brittle Cornea Syndrome: Molecular Diagnosis and Management. [PDF]
Diagnostics (Basel)Background and Clinical Significance: Brittle cornea syndrome (BCS) is a rare, autosomal recessive connective tissue disorder characterized by extreme corneal thinning, high myopia, and increased risk of spontaneous or trauma-induced ocular rupture.
Zeppieri M +8 more
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Clinical and genetic aspects of hereditary corneal dystrophies
Офтальмохирургия, 2016 This review includes the clinical and genetic aspects of congenital and genetically determined dystrophies of the cornea. Development of new approaches based on the study of clinical signs of the disease and their correlation with the results of genetic analysis is a foundation for the complex pathogenically oriented diagnosis of hereditary corneal ...
B. E. Malyugin, O. P. Antonova
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Update on the genetics of corneal endothelial dystrophies
Indian Journal of Ophthalmology, 2022 Corneal endothelial dystrophies are a heterogeneous group of diseases with different modes of inheritance and genetic basis for each dystrophy. The genes associated with these diseases encode transcription factors, structural components of the stroma and
Chitra Kannabiran +3 more
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Current issues of differential diagnosis and treatment of congenital corneal opacities in children
Офтальмохирургия, 2021 Purpose. To analyze the literature on the topic of congenital corneal opacities, their diagnosis, differential diagnosis, as well as the choice of optimal treatment tactics.Congenital corneal opacities (CCO), when effective treatment is delayed, usually ...
A. V. Pleskova +2 more
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Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectives [PDF]
International Journal of Ophthalmology, 2016 Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations.
Ze-Nan Lin, Jie Chen, Hong-Ping Cui
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Targeted Expression of TGFBIp Peptides in Mouse and Human Tissue by MALDI-Mass Spectrometry Imaging
Separations, 2021 Stromal corneal dystrophies are a group of hereditary disorders caused by mutations in the TGFBI gene. The mutant TGFBIp is prone to protein aggregation and the mutant protein gets deposited in the cornea, leading to severe visual impairment.
Venkatraman Anandalakshmi +7 more
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Long-Term Results after DMEK (Descemet’s Membrane Endothelial Keratoplasty) [PDF]
, 2020 Ziel der Arbeit: Evaluation der langfristigen Ergebnisse sowie der Komplikationsrate nach Descemet’s Membran Endothelialen Keratoplastik (DMEK) Methoden: Eine cross-sectional, Fall-Serien Studie.
Wardeh, Rima
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Updates on congenital hereditary endothelial dystrophy
Taiwan Journal of Ophthalmology, 2023 Congenital hereditary endothelial dystrophy (CHED) is a rare genetic corneal disorder causing progressive cornea clouding and significant visual impairment.
Neet Mehta +8 more
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Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome) [PDF]
, 2008 Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss.
Julie Desir, Marc Abramowicz
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Bilateral, anterior stromal ring opacity of the cornea [PDF]
, 1998 AIMS/BACKGROUND: To describe a bilateral, mid peripheral, ring-shaped corneal opacity, not resembling any known corneal degeneration, dystrophy, or other disorder, and occurring without ocular or systemic disease.
Binder, P.S. +4 more
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