Results 1 to 10 of about 88 (87)

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
doaj   +1 more source

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, Sunita Chaurasia, Muralidhar Ramappa, Venkateswara Vinod Mootha   +3 more
doaj   +1 more source

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, E. V. Mazanova, A. A. Sorokin   +2 more
doaj   +1 more source

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
doaj   +1 more source

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, Guillaume Hochart, David Bonnel, Jonathan Stauber, Shigeto Shimmura, Rajamani Lakshminarayanan, Konstantin Pervushin, Jodhbir S. Mehta   +7 more
doaj   +1 more source

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, Anshuman Verma, Divya Sree Achanta, Chitra Kannabiran, Sanhita Roy, Dilip Kumar Mishra, Sunita Chaurasia, Deepak Paul Edward, Muralidhar Ramappa   +8 more
doaj   +1 more source

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations

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, Ranjan Gupta, Arundhati Sharma, Seema Sen, Shikha Gupta, Radhika Tandon   +5 more
doaj   +1 more source

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
doaj   +1 more source

Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy

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, Lamei Yuan, Yanna Cao, Hongbo Xu, Yunfeiyang Li, Hao Deng   +5 more
doaj   +1 more source

Surpresa refrativa pós-facoemulsificação em distrofia corneana posterior amorfa Post-phacoemulsification refractive surprise in a posterior amorphous corneal dystrophy patient

Revista Brasileira de Oftalmologia, 2010
Relato de um caso de surpresa refracional pós-operatória não pretendida em paciente portador de distrofia corneana posterior amorfa submetida à facoemulsificação.
Giuliano de Oliveira Freitas, Mário José Carvalho   +1 more
doaj   +1 more source