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Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis
Ist Teil von
The New England journal of medicine, 2008-05, Vol.358 (21), p.2231-2239
Ort / Verlag
Boston, MA: Massachusetts Medical Society
Erscheinungsjahr
2008
Quelle
MEDLINE
Beschreibungen/Notizen
A form of Leber's congenital amaurosis is caused by mutant
RPE65
, a critical component of the visual cycle. Two early clinical trials to assess subretinal injection of a viral vector containing
RPE65
in young adults with advanced retinal degeneration show that this approach is generally safe in the short term, although one group reported an adverse event: macular hole. The authors observed improvement in some measures of visual function.
Two early clinical trials to assess subretinal injection of a viral vector containing RPE65 in young adults with advanced retinal degeneration show that this approach is generally safe in the short term, although one group reported an adverse event: macular hole. The authors observed improvement in some measures of visual function.
Leber's congenital amaurosis is a term used to describe a group of recessively inherited, severe, infantile-onset rod–cone dystrophies.
1
Mutation of one of several genes, including
RPE65
, causes disease that involves impaired vision from birth
2
,
3
and typically progresses to blindness in the third decade of life. There is no effective treatment.
RPE65
is expressed in the retinal pigment epithelium and encodes a 65-kD protein that is a key component of the visual cycle,
1
,
4
–
8
a biochemical pathway that regenerates the visual pigment after exposure to light.
9
–
14
A lack of functional RPE65 results in deficiency of 11-
cis
. . .