Leber congenital amaurosis
Le·ber con·gen·i·tal am·au·ro·sis
(lā'bĕr kŏn-jen'i-tăl am'awr-ō'sis)Retinitis pigmentosa characterized by severe visual impairment, nystagmus, and a 'flat' electroretinogram.
Mentioned in
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- amaurosis
- amaurosis congenita of Leber
- amaurosis fugax
- disease
- dissociated nystagmus
- downbeat nystagmus
- fundus
- galvanic nystagmus
- GUCY2D
- jerk nystagmus
- keratoglobus
- LCA1
- Leber congenital amaurosis type 1
- Leber congenital amaurosis type 10
- Leber congenital amaurosis type 15
- Leber congenital amaurosis type 3
- Leber's congenital amaurosis
- macrocornea
- miner's nystagmus
References in periodicals archive
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winnerRenee Dooley RENEE Dooley, from Thorntree, was diagnosed with leber congenital amaurosis - a rare condition that will eventually cause her to lose her sight.
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
Background: Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy.
EDIT-101 for Leber Congenital Amaurosis type 10 (LCA10) remains on track for a mid-2018 IND filing
Gene Therapy to Activate RPE65 for Leber Congenital Amaurosis - Drug Profile 75
I was born with Leber congenital amaurosis, a genetic condition that means that I have very little useful vision.
Experts told his mother that his eyesight will get worse through the years, Guardino was diagnosed with Leber congenital amaurosis.
Leber congenital amaurosis, a severe dystrophy of the retina, typically becomes evident in the first year of life.
It has also restored some vision in people with a rare type of inherited blindness called Leber congenital amaurosis (SN: 5/24/08, p.
Genzyme, a Sanofi company, has established a research collaboration with the University of Florida and the University of Pennsylvania to develop a gene therapy for the treatment of Leber congenital amaurosis type 1 (LCA-1), rare genetic disease that causes childhood blindness.
Washington, July 15 ( ANI ): Scientists have revealed that a new oral medication is showing significant progress in restoring vision to patients with Leber congenital amaurosis (LCA).
This report provides information on the therapeutic development for Leber Congenital Amaurosis (LCA), complete with latest updates, and special features on late-stage and discontinued projects.
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