Results 11 to 20 of about 44,889 (298)

A review of ocular genetics and inherited eye diseases

African Vision and Eye Health, 2012
During the past twenty years, there has been an exponential increase in the knowledge and under-standing of ocular genetic diseases and syndromes. The number of human eye diseases that have a known genetic or hereditary component continues to increase ...
S. D. Mathebula
doaj   +3 more sources

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   +2 more sources

Genetics in Ophthalmology III – Posterior 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 Utin
doaj   +2 more sources

Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders [PDF]

International Journal of Ophthalmology, 2018
Past 25y have witnessed an exponential increase in knowledge and understanding of ocular diseases and their respective genetic underpinnings. As a result, scientists have mapped many genes and their variants that can influence vision and health of our ...
Mahavir Singh, Suresh C Tyagi
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Towards the matter of genetic consulting in various forms of congenital and hereditary eye diseases

Офтальмохирургия, 2016
Purpose. To evaluate the results in genetic consulting of patients with various forms of congenital and hereditary eyes pathology.Material and methods.
B. E. Malyugin, S. A. Borzenok, O. V. Khlebnikova, M. F. Shurygina, P. M. Arbukhanova, A. N. Loginova, E. G. Polyanskaya, O. P. Antonova   +7 more
doaj   +3 more sources

A Comprehensive Review of Leber Hereditary Optic Neuropathy and Its Association with Multiple Sclerosis-Like Phenotypes Known as Harding’s Disease

Eye and Brain
Jehad Alorainy,1 Yara Alorfi,2 Rustum Karanjia,3– 5 Nooran Badeeb6 1College of Medicine, King Saud University, Riyadh, Saudi Arabia; 2Faculty of Medicine, University of Jeddah, Jeddah, Saudi Arabia; 3Doheny Eye Centers, Department of Ophthalmology, David
Alorainy J, Alorfi Y, Karanjia R, Badeeb N   +3 more
doaj   +2 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
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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

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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Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]

, 2014
Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
Cristina Scaduto, Tonon C, Caporali L, NASSETTI, STEFANIA-ALESSANDRA, Daniela Brunetto, Nassetti, Stefania, Raffaele Lodi, Tonon, Caterina, Francesco Toni, Stipa C, Carelli V., D. Brunetto, Antonio Torroni, A. Torroni, Caterina Tonon, Leonardo Caporali, F. Gandini, Chiara La Morgia, Toni, Francesco, Toni F, Nassetti S, Lodi R, Brunetto D, Anna Olivieri, Francesca Gandini, La Morgia C, Brunetto, Daniela, Parmeggiani, Antonia, Carlotta Stipa, Gandini, Francesca, Scaduto C, C. Scaduto, Stefania Nassetti, Valerio Carelli, Stipa, Carlotta, Carelli, Valerio, Scaduto, Cristina, Lodi, Raffaele, La Morgia, Chiara, Antonia Parmeggiani, Caporali, Leonardo, Torroni, Antonio, Olivieri, Anna, A. Olivieri, Parmeggiani A   +44 more
core   +1 more source