Results 11 to 20 of about 2,934 (184)
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 ...
B. E. Malyugin, O. P. Antonova
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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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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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Indian Journal of Ophthalmology, 2016 Background: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter.
Babu Lal Kumawat +5 more
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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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HEREDITARY CORNEAL DYSTROPHIES
Archives of Ophthalmology, 1942 The study of hereditary corneal degenerations has received considerable clarification by the work of Bucklers. 1 Since 1890, when Groenouw 2 reported the first case, a great many types of familial corneal dystrophy have been described which have differed somewhat in the size, shape and position of the opacities.
E. H. McBAIN
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Journal of Ophthalmology, 2019 Background/Aims. Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the progressive accumulation of deposits in different corneal layers.
Qin Xiang +5 more
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CLASSIFICATION AND TREATMENT OF HEREDITARY CORNEAL DYSTROPHIES
Archives of Ophthalmology, 1954 AS A RULE hereditary degenerations of the cornea can be clearly distinguished from other corneal affections by their bilateral aspect, more or less typical morphology, and slow progression, with absence of vascularization. In addition, the fundamental criteria of all heredodegenerations apply equally to corneal degenerations: onset at approximately the
A. FRANCESCHETTI
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Genetics in Ophthalmology II–Anterior Segment Diseases
Türk Oftalmoloji Dergisi, 2012 Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field
Canan Aslı Utine, Gülen Eda Utine
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Brittle Cornea Syndrome: Molecular Diagnosis and Management [PDF]
DiagnosticsBackground 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.
Marco Zeppieri +8 more
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