Results 241 to 250 of about 44,889 (298)

[Gene therapy for hereditary eye diseases].

Ugeskrift for laeger, 2022
Inherited retinal disorders (IRD) are a common cause of severe visual impairment among children and young adults in Denmark. Gene therapy with voretigene neparvovec for a specific, and in Denmark common, cause of IRD (RPE65-related retinal dystrophy) was implemented as standard clinical practice in 2020 as the first of its kind.
Line, Kessel, Mette, Bertelsen, Kristian, Klemp, Ulrik Correll, Christensen   +3 more
openaire   +1 more source

HEREDITARY DISEASES OF THE EYE IN A STUDY OF BLIND AND PARTIALLY SIGHTED

Acta Ophthalmologica, 1981
This study is based on an investigation of all blind and partially sighted persons living in the county of Hordaland, Norway with a population of 379 734. It was found that 1441 were visually impaired with a vision of 6/18 or less or 0.38% of the total population. There was a high frequency of hereditary diseases (29.6%).
openaire   +2 more sources

[Changing perception of hereditary eye diseases].

Nederlands tijdschrift voor geneeskunde, 2002
The authors present the cases of two parents with Usher syndrome type I who appeared to have normal offspring, and two families, one with autosomal dominant retinoblastoma and a RB1-gene mutation and one with primary open angle glaucoma and a myocilin gene mutation, in whom DNA-analysis was used to see whether check-ups were needed.
Plomp, AS, Bergen, AAB, Hulsman, CAA, de Jong, PTVM (Paulus)   +3 more
openaire   +2 more sources

Hereditary eye disease and the BVA/KC/ISDS Eye Scheme

In Practice, 1995
THE main purpose of the British Veterinary Association/Kennel Club/international Sheep Dog Society (BVA/KC/ISDS) Eye Scheme is to ensure that there is no evidence of hereditary eye disease in dogs which are used for breeding. In order to achieve this aim it is important not only that all dogs which are to be used for breeding are examined under the ...
openaire   +1 more source

Prevention of Hereditary Eye Disease

1975
During the past few decades, there has been in our clinic a relative increase of hereditary eye diseases compared to diseases of infectious or traumatic origin. A 1972 report from Montreal’s Children’s Hospital (Scriber, 1972) estimated that 30% of all pediatric admissions were the result of pure genetic diseases or diseases with strong genetic ...
openaire   +1 more source

Hereditary eye disease and the BVA/KC/ISDS Eye Scheme: an update

In Practice, 2008
THE main purpose of the British Veterinary Association/Kennel Club/International Sheep Dog Society (BVA/KC/ISDS) Eye Scheme is to ensure that there is no evidence of hereditary eye disease in dogs that are used for breeding. In order to achieve this aim it is important not only that all dogs that are to be bred from are examined under the scheme ...
openaire   +1 more source

[Gene therapy for hereditary eye diseases: where are we?].

Revue medicale suisse, 2009
Recently, preliminary results of three clinical gene therapy trials for early onset retinitis pigmentosa--Leber congenital amaurosis--suggested that treating this degenerative retinal disease by gene transfection can be safe and efficient to restore a visual function.
Hoai, Viet Tran, Daniel F, Schorderet, Corinne, Kostic, Francis L, Munier, Yvan, Arsenijevic   +4 more
openaire   +1 more source

Hereditary Eye Disease in Ningxia Hui Autonomous Region of China

2018
Ningxia Hui Autonomous Region is the main gathering region of Hui nationality in China. Because of unique geographical environment and national characteristics, the incidence of hereditary eye disease is higher in Ningxia Region. From 2010 to 2017, our research team collected 230 pedigrees and 268 sporadic patients with monogenic hereditary eye disease,
Weining Rong, Huiping Li, Xunlun Sheng
openaire   +1 more source

[Hereditary eye diseases--diagnosis, therapy and prevention].

Tijdschrift voor diergeneeskunde, 1991
Eight hereditary eye diseases are discussed. These eight abnormalities follow the main possible patterns of inheritance. The clinical aspects and the prevention of these illnesses are discussed.
openaire   +1 more source

[The research advances and applications of genome editing in hereditary eye diseases].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology, 2017
Genome editing is a cutting-edge technology that generates DNA double strand breaks at the specific genomic DNA sequence through nuclease recognition and cleavage, and then achieves insertion, replacement, or deletion of the target gene via endogenous DNA repair mechanisms, such as non-homologous end joining, homology directed repair, and homologous ...
S W, Cai, Y, Zhang, M Z, Hou, Y, Liu, X R, Li   +4 more
openaire   +1 more source