Results 81 to 90 of about 7,465 (249)

Delayed‐onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.
Abstract Objective Cone‐rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs).
Jennifer C. Kwok, Yu Sato, Jessica K. Niggel, Emma Ozdogan, Leonardo Murgiano, Keiko Miyadera   +5 more
wiley   +1 more source

NMNAT1 mutations cause Leber congenital amaurosis.

, 2012
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes(3) (Retinal Information Network ...
Nakamaru-Ogiso, E, Mackay, DS, Zhang, Q, Kannabiran, C, Moore, Anthony, Chakarova, C, Audo, I, Falk, MJ, Fonseca-Kelly, Z, Zeitz, C, Borman, AD   +10 more
core  

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration

, 2007
PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD).
Borruat, François-Xavier, Munier, Francis L, Chachoua, L., Munier, F.L., Chachoua, Louisa, Barthelmes, D., Boussalah, Myriam, Nouri, M.T., Mataftsi, A., Borruat, F.X., Schorderet, Daniel F, Boussalah, M., Mataftsi, Asimina, Barthelmes, Daniel, Nouri, Mohamed T, Schorderet, D.F.   +15 more
core   +1 more source

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Purpose To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. Observation A 4‐month‐old female presented with subtle, roving eyes that were initially attributed to normal development.
Janan Niknam, Arpineh Petrosyan, Victoria Agustin, Amanda Shoubaki, Kaylita Chantiluke   +4 more
wiley   +1 more source

Predominant rod photoreceptor degeneration in Leber congenital amaurosis

, 2005
ophthalmology, AIPL1 gene, immunocyte chemistry, microscopy, photoreceptor, Leber congenital amaurosis, opsin, lectin, recoverin, cone ...
Luthert, P.J., Preising, M.N., Cheetham, M.E., Munro, P.H.G., van der Spuy, J., Bek, T., Heegaard, S.   +6 more
core  

Gene therapy for Leber congenital amaurosis [PDF]

, 2018
Introduction: Leber congenital amaurosis (LCA) is a group of recessively inherited, early infantile-onset, severe rod-cone dystrophies that can result from defects in at least 25 genes, including RPE65, CEP290, RDH12, AIPL1 and GUCY2D. The possibility of
Kumaran, N, Michaelides, M, Bainbridge, J, Ali, R, Smith, AJ   +4 more
core  

Current Concepts in the Treatment of Retinitis Pigmentosa

Journal of Ophthalmology, 2011
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), affect 1 in 4000 individuals in the general population.
Maria A. Musarella, Ian M. MacDonald
doaj   +1 more source

SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration

eLife, 2020
Leber congenital amaurosis type nine is an autosomal recessive retinopathy caused by mutations of the NAD+ synthesis enzyme NMNAT1. Despite the ubiquitous expression of NMNAT1, patients do not manifest pathologies other than retinal degeneration. Here we
Yo Sasaki, Hiroki Kakita, Shunsuke Kubota, Abdoulaye Sene, Tae Jun Lee, Norimitsu Ban, Zhenyu Dong, Joseph B Lin, Sanford L Boye, Aaron DiAntonio, Shannon E Boye, Rajendra S Apte, Jeffrey Milbrandt   +12 more
doaj   +1 more source

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

, 2013
This study aimed to identify genetic mechanisms underlying severe retinal degeneration in one large family from northern Sweden, members of which presented with early-onset autosomal recessive retinitis pigmentosa and juvenile macular dystrophy.
Marie S Burstedt, Norberg, Anna,, Sandgren, Ola,, Irina Golovleva, Burstedt, Marie S,, Ola Sandgren, Frida Jonsson, Golovleva, Irina,, Jonsson, Frida,, Anna Norberg   +9 more
core   +1 more source

CRISPR/Cas9-mediated generation of a homozygous CRB2 knockout H1 human embryonic stem cell line

Stem Cell Research
Mutations in the Crumbs homolog 2 (CRB2) gene cause various autosomal recessive genetic diseases, such as leber congenital amaurosis, retinitis pigmentosa and ventriculomegaly with cystic kidney disease.
Lei Zhang, Fengfeng Zhang, Mingze Yao
doaj   +1 more source