Details

Autor(en) / Beteiligte

• Edwards, Thomas L
• Jolly, Jasleen K
• Groppe, Markus
• Barnard, Alun R
• Cottriall, Charles L
• Tolmachova, Tanya
• Black, Graeme C
• Webster, Andrew R
• Lotery, Andrew J
• Holder, Graham E
• Xue, Kanmin
• Downes, Susan M
• Simunovic, Matthew P
• Seabra, Miguel C
• MacLaren, Robert E

Titel

Visual Acuity after Retinal Gene Therapy for Choroideremia

Ist Teil von

• The New England journal of medicine, 2016-05, Vol.374 (20), p.1996-1998

Ort / Verlag

United States: Massachusetts Medical Society

Erscheinungsjahr

2016

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• In this study, the subfoveal injection of a gene-therapy vector carrying nonmutated CHM, the gene that, when mutated, causes a form of blindness called choroideremia, was followed by an improvement in visual acuity in two of six patients at 3.5 years after injection. To the Editor: Two recent clinical reports of retinal gene therapy with adeno-associated virus (AAV) vectors in patients with Leber’s congenital amaurosis showed initial gains in visual function that subsequently declined. 1 , 2 We previously reported early improvement in visual acuity in two of six patients who received retinal gene therapy in one eye (the study eye) to treat choroideremia, 3 a disease that is characterized by atrophy of the choriocapillaris and retinal pigment epithelium and involves vision loss that leads to blindness. Choroideremia is caused by loss-of-function mutations in the gene CHM . We delivered nonmutated CHM in an AAV vector . . .