Vision 1 year after gene therapy for Leber's congenital amaurosis.
نویسندگان
چکیده
To the Editor: The discussion of donor assessment by Kotton et al. suggests that exclusion criteria from the Centers for Disease Control and Prevention (CDC) (Table 3 of the article) are used to reduce the likelihood of transmission of the human immunodeficiency virus (HIV). In fact, the CDC’s criteria do not have an exclusionary function but define a group of donors considered to have a high risk for transmission of HIV. The policy of the United Network for Organ Sharing does stipulate that transplantation centers must disclose this organ-specific information to potential recipients at the time the organ is offered, presumably during a discussion of informed consent.1 The CDC’s criteria were devised in 19942 in an effort to exclude donors with an unacceptably high risk of transmitting HIV. Fifteen years later, rising waiting-list mortality, improved prospective detection of infectious agents with nucleic acid testing, growing uncertainty regarding the effectiveness of the criteria, and the problem of promoting social bias against homosexual men have cast doubt on the importance of the criteria.3
منابع مشابه
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium-specific 65-kDa protein gene (RPE65). We investigated the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) (ClinicalTrials.gov number, N...
متن کامل3235 A gene for Leber's congenital amaurosis maps to chromosome 17p
Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the most early and severe form of inherited retinopathy and accounts for 5% of all inherited retinal dystrophies. Here we report the first mapping of a gene for LCA to the distal short arm of chromosome 17 by linkage analysis in 15 multiplex families (Zmax = 5.14 at theta = 0.15 for ...
متن کاملLeber's congenital amaurosis.
rig. renpheralfundus cS. We have had occasion to see a similar case, first in 1974 when the patient, a black female with no apparent vision but otherwise well, was 6 months old. At that time dilated fundus examination under anaesthesia (EUA) was normal. Repeat EUA in 1977 at age 4 years revealed bilateral peripheral fundus lesions essentially identical to those described by Chew et al. (Figs. 1...
متن کاملLeber's amaurosis with nephronophthisis and congenital hepatic fibrosis.
We describe a case of Leber's amaurosis in a one-year-old girl with unusual presentations. She presented with small clue like tachypnea and nystagmoid novement of eyeswhich when pursued revealed involvement like hepatic, renal and retina.
متن کاملGene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal recessive blinding disease. Three independent studies have provided evidence that the subretinal administration of adeno-associated viral (AAV) vectors encoding RPE65 in patients affected with LCA2 due to mutations in the RPE65 gene, is ...
متن کاملJoubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.
Five children with features of Joubert's syndrome and Leber's amaurosis are described. The presenting symptoms were panting tachypnoea in the newborn, prolonged apnoeic attacks in the neonatal period (in both of identical twins), global developmental delay, and failure to develop vision. Three children had multiple hemifacial spasms, such as have been seen in Joubert's syndrome, and the same th...
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ورودعنوان ژورنال:
- The New England journal of medicine
دوره 361 7 شماره
صفحات -
تاریخ انتشار 2009