AI den Hollander, RK Koenekoop, MD Mohamed, … - Nature genetics, 2007 - nature.com Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at
or within a few months of birth. Here we show, using homozygosity mapping, that
the LCA5 gene on chromosome 6q14, which encodes the previously unknown ... Cited by 34 - Related articles - BL Direct - All 7 versions
- ►iovs.org HPN Scholl, NH Chong, AG Robson, GE … - Investigative ophthalmology & visual science, 2004 - ARVO RESULTS. All patients with LCA had vision reduced to perception of light and had
undetectable ERGs. FAF was normal in patient A. In patient B, there was a
parafoveal ring of mildly increased FAF. The midperiphery showed mildly ... Cited by 22 - Related articles - BL Direct - All 5 versions
R Allikmets - Ophthalmic Genetics, 2004 - informahealthcare.com Abstract Leber congenital amaurosis (LCA; estimated prevalence
1:50,000–100,000) is an early-onset inherited cause of childhood blindness
characterized by a severe retinal dystrophy immediately after birth. ... Cited by 11 - Related articles - BL Direct - All 4 versions
VL Ramprasad, N Soumittra, D Nancarrow, P … - Molecular Vision, 2008 - pubmedcentral.nih.gov Leber congenital amaurosis (LCA) is one of the most common causes of hereditary
blindness in infants. To date, mutations in 13 known genes and at two other loci
have been implicated in LCA causation. An examination of the known genes ... Cited by 4 - Related articles - All 6 versions
R Allikmets, J Zernant - DNA microarrays, 2005 - books.google.com From gene chips to disease chips-new approach in molecular diagnosis of eye
diseases Rando Allikmets and Jana Zernant 7 7.1 Introduction Inherited retinal
degenerations account for a substantial fraction of blind- ness in children ... Cited by 1 - Related articles
SL RUDANKO - oa.doria.fi Page 1. DEPARTMENT OF OPHTHALMOLOGY, UNIVERSITY OF HELSINKI, FINLAND VISUAL
IMPAIRMENT IN FINNISH CHILDREN Prevalence, causes and ... Related articles - View as HTML - All 2 versions
P Moradi, AT Moore - Eye (London, England), 2007 - ncbi.nlm.nih.gov 1: Eye. 2007 Oct;21(10):1344-51. Molecular genetics of infantile-onset retinal
dystrophies. Moradi P, Moore AT. Institute of Ophthalmology UCL, London, UK. ... Related articles - BL Direct - All 2 versions
RK Özgül, B Bozkurt, H K&inodot… - Eye, 2005 - nature.com Leber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which
causes severe visual impairment in early childhood. Recent molecular genetic
studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, ... Related articles - BL Direct - All 4 versions
SG Jacobson, TS Aleman, AV Cideciyan, A … - Molecular Vision, 2009 - pubmedcentral.nih.gov Both LCA5 patients had light perception vision only, hyperopia, and nystagmus.
P1 showed a prominent central island of retinal pigment epithelium (RPE)
surrounded by alternating elliptical-appearing areas of decreased and ... Related articles - All 4 versions
C Messages - Springer LCA is characterized clinically by severe visual impairment and nystagmus from
early infancy associated with a nonrecordable or substantial- ly abnormal rod
and cone electroretinogram (ERG) [32, 31, 118]. The pupils react sluggishly ... Related articles
