Results 1 to 10 of about 91,355 (136)

Burden and characteristics of inherited retinal diseases in China [PDF]

Scientific Reports
Hereditary eye diseases, particularly inherited retinal diseases (IRDs), are major causes of visual impairment and blindness. However, IRDs real-world impact in China remains limited.
Yuqing Lin, Xiyang Dou, Lihong Li, Wenhui Zhou, Wenqing Zhang, Lei Wang, Jason Zihan Wang, Yin Shen   +7 more
doaj   +2 more sources

Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments [PDF]

Clinical Ophthalmology
Deema E Jomar,1 Waleed Khayyat,2 Naif AM Almontashiri,2,3 Khabir Ahmad,2 Syed Hameed,2 Samar A Al-Swailem1 1Anterior Segment Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; 2Research Department, King Khaled Eye Specialist Hospital ...
Jomar DE, Khayyat W, Almontashiri NAM, Ahmad K, Hameed S, Al-Swailem SA   +5 more
doaj   +2 more sources

Hereditary Eye Diseases in German Shepherd Dog

Folia Veterinaria, 2022
Hereditary eye diseases occur to varying degrees in all dog breeds. Individual purebred breeds have specific predispositions to various eye disorders.
Zubrický P., Trbolová A.
doaj   +1 more source

Epidemiology of hereditary eye disease in the populations of Russian Federation [PDF]

Клиническая офтальмология, 2022
V.V. Kadyshev1, E.K. Ginter1, S.I. Kutsev1, Zh.G. Oganezova1,2, R.A. Zinchenko1,3 1Research Center for Medical Genetics, Moscow, Russian Federation 2Pirogov Russian National Research Medical University, Moscow, Russian Federation 3N.A ...
V.V. Kadyshev, E.K. Ginter, S.I. Kutsev, Zh.G. Oganezova, R.A. Zinchenko   +4 more
doaj  

PCR Detection of an Eye Anomaly in a Family of Longhaired Collies

Folia Veterinaria, 2022
Inherited eye diseases have been the subject of genetic research for many years. This paper focuses on the optimisation of the DNA test based on the polymerase chain reaction (PCR) for the detection of Collie Eye Anomaly (CEA) in dogs.
Holečková B., Bučan J., Horňáková Ľ., Halušková J., Sedláková S., Galdíková M.   +5 more
doaj   +1 more source

The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries.

PLoS ONE, 2023
Genetic disease control is generally not given the importance it deserves. Information about what percentage of individuals carry a disorder-causing mutation is crucial for breeders to produce healthy offspring and maintain a healthy dog population of a ...
Zuzana Majchrakova, Evelina Hrckova Turnova, Marcela Bielikova, Jan Turna, Andrej Dudas   +4 more
doaj   +1 more source

The clinical spectrum and prevalence of hereditary ophthalmopathology child population in 12 districts of the Rostov region

Oftalʹmologiâ, 2014
Purpose: to study the diversity of the clinical spectrum and prevalence of hereditary ophthalmopathology child population in 12 districts of the Rostov region.Methods: We conducted an epidemiological study of hereditary ophthalmopathology population of ...
O. L. Kireeva, O. V. Chlebnikova, S. S. Amelina, G. I. Elchinova, R. A. Zinchenko, V. V. Kadsjyshev, E. K. Ginter   +6 more
doaj   +3 more sources

Prospects for the diagnosis and gene therapy of inherited retinal dystrophies caused by biallelic mutations in the RPE65 gene

Российский офтальмологический журнал, 2021
Inherited retinal dystrophies (IRD) is an extensive group of genetically heterogeneous diseases with significant clinical polymorphism. With the development of gene therapy, a new era in the treatment of hereditary  human diseases has opened.
V. V. Neroev, L. A. Katargina, V. V. Kadyshev, I. V. Zolnikova, S. I. Kutsev   +4 more
doaj   +1 more source

Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting

Indian Journal of Ophthalmology, 2022
Purpose: To analyze the genetic referral practices of pediatric ophthalmologists in an urban setting. Methods: (1) The first limb of the study: cross-sectional, observational study among children visiting the outpatient department of pediatric ...
Shruti Bajaj, Mathangi Venkatraman, Nidhi Agarwal, Mihir Kothari   +3 more
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Genetics and therapy for pediatric eye diseases

EBioMedicine, 2021
Ocular morphogenesis in vertebrates is a highly organized process, orchestrated largely by intrinsic genetic programs that exhibit stringent spatiotemporal control.
Holly.Y. Chen, Ordan J. Lehmann, Anand Swaroop   +2 more
doaj   +1 more source