- ►iovs.org HPN Scholl, NH Chong, AG Robson, GE Holder, AT … - … ophthalmology & visual …, 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
EM Stone - American Journal of Ophthalmology, 2007 - Elsevier Four hundred forty instances of 189 different disease-causing sequence variations were observed in
this study, 98 of which have not been previously reported. One hundred forty-six of the 189
variations (77%) were observed in ... Cited by 22 - Related articles - All 27 versions
MN Preising, S Heegaard - Trends in Molecular Medicine, 2004 - Elsevier Successful treatment of early-onset severe retinal degeneration (EOSRD) in an animal model of the
disease has provided the first proof-of-principle for retinal gene therapy of higher mammals.
Currently, large sets of DNA ... Cited by 11 - Related articles - All 5 versions
J van der Spuy, PM Munro, PJ Luthert, MN Preising, T … - Mol Vis, 2005 - molvis.org Purpose: An unusual retinal vascular morphology in an enucleated eye from a patient with Leber
congenital amaurosis (LCA) has been associated with a mutation in AIPL1. The AIPL1 protein is
expressed in the pineal gland and ... Cited by 4 - Related articles - Cached - All 7 versions
- ►iovs.org J Hidalgo-de-Quintana, RJ Evans, ME Cheetham, J … - … ophthalmology & visual …, 2008 - ARVO PURPOSE. AIPL1 mutations cause the severe inherited blindness Leber congenital amaurosis (LCA). The
similarity of AIPL1 to tetratricopeptide repeat (TPR) cochaperones that interact with the chaperone
Hsp90 and the ability of AIPL1 to ... Cited by 1 - Related articles - All 6 versions
H Vorum, M Østergaard, GE Rice, B Honoré, T Bek - Proteome Science, 2007 - proteomesci.com To identify the pattern of protein expression in the retina from a patient with Leber's Congenital
Amaurosis (LCA) secondary to a mutation in the AIPL1 gene. The retina from one eye of a patient with
LCA and 7 control eyes were ... Cited by 1 - Related articles - Cached - All 8 versions
Y Ben-Arie-Weintrob, EL Berson, TP Dryja - Ophthalmic Genetics, 2005 - informahealthcare.com This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP)
or an allied disease in whom the responsible gene defect was identified, including 10 cases with
dominant RP (cases with mutations ... Cited by 1 - Related articles - All 5 versions
RG Weleber, PJ Francis, KM Trzupek - ncbi.nlm.nih.gov Disease characteristics. Leber congenital amaurosis (LCA), a severe dystrophy of the retina,
typically becomes evident in the first year of life. Visual function is usually poor and often
accompanied by nystagmus, sluggish ... View as HTML
H Vorum, M Østergaard, GE Rice, B Honoré, T … - Proteome Science, 2007 - biomedcentral.com Address: 1Department of Ophthalmology, Aarhus University Hospital, Nørrebrogade 44, DK-8000 Aarhus
C, Denmark, 2Department of Medical Biochemistry, University of Aarhus, Denmark and 3Translational
Proteomics, The Baker Heart ... Related articles - View as HTML - All 2 versions
H Vorum… - Proteome Science, 2007 - ukpmc.ac.uk To identify the pattern of protein expression in the retina from a patient with Leber's Congenital
Amaurosis (LCA) secondary to a mutation in the AIPL1 gene. The retina from one eye of a patient with
LCA and 7 control eyes were ... Related articles