Results 51 to 60 of about 15,202 (200)

RPGRIP1 and Cone–Rod Dystrophy in Dogs [PDF]

, 2011
Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype ...
Zangerl, Barbara, Aguirre, Gustavo D, Kuznetsova, Tatyana N   +2 more
openaire   +3 more sources

Microscopic Inner Retinal Hyper-reflective Phenotypes in Retinal and Neurologic Disease [PDF]

, 2014
Purpose. We surveyed inner retinal microscopic features in retinal and neurologic disease using a reflectance confocal adaptive optics scanning light ophthalmoscope (AOSLO). Methods. Inner retinal images from 101 subjects affected by one of 38 retinal or
Carroll, Joseph, Cooper, Robert F., Dubis, Adam M., Dubra, Alfredo, Higgins, Brian P., Kim, Judy E., Scoles, Drew, Stepien, Kimberly E., Summerfelt, Phyllis, Weinberg, David V.   +9 more
core   +2 more sources

The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic [PDF]

, 2012
Purpose. To evaluate retinal structure and photoreceptor mosaic integrity in subjects with OPN1LW and OPN1MW mutations. Methods. Eleven subjects were recruited, eight of whom have been previously described.
Banin, Eyal, Carroll, Joseph, Connor, Thomas B., Jr., Cooper, Robert F., Dubis, Adam M., Dubra, Alfredo, Fishman, Gerald, Gardner, Jessica C., Genead, Mohamed, Hardcastle, Alison J., Hunt, David M., Michaelides, Michel, Mizrahi-Meissonnier, Liliana, Moore, Anthony T., Neitz, Jay, Neitz, Maureen, Nordgren, Rick, Sharon, Dror, Stepien, Kimberly E., Williams, David R.   +19 more
core   +2 more sources

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
doaj   +1 more source

Cone dystrophy associated with autoimmune polyglandular syndrome type 1

Scientific Reports, 2023
To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous ...
Abdulrahman Badawi, Moustafa Magliyah, Omar Alabbasi, Lama AlAbdi, Fowzan S. Alkuraya, Patrik Schatz, Hani Basher ALBalawi, Marco Mura   +7 more
doaj   +1 more source

RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]

, 2018
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre, Anselme, Aravind, Beales, Bergen, Berger, Berson, Billaud, Burnside, Burridge, Cahalan, Carroll, Chapman, Cossart, Ferreira, Ferreira, Fuchs, Habas, He, Hildebrandt, Hogan, Imanishi, Jacobson, Johnson, Kaibuchi, Katsanis, Kaykas, Kelley, Khaliq, Khanna, Khanna, Kroes, Lewis, Li, Li, Li, MacDonald, MacDonald, Meyer, Mitchell, Nelson, Nishina, Nusse, Prevarskaya, Putney, Ridley, Roepman, Rosado, Rüther, Rüther, Sage, Schermer, Schneider-Maunoury, Shu, Stainier, Tolwinski, Torban, Vaudin, Vervoort, Vesque, Wallingford, Wittinghofer, Wolfrum, Wright, Wright, Wright, Wright, Wright, Zrenner   +68 more
core   +3 more sources

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt   +4 more
doaj   +1 more source

Genetic Etiology and Clinical Consequences of Cone Disorders [PDF]

, 2011
Hereditary retinal disorders constitute a large heterogeneous group of diseases in which the photoreceptors are primarily aff ected. When cone cells are aff ected, one cannot see details or perceive color.
Thiadens, A.A.H.J. (Alberta)
core   +2 more sources

Sphingolipids as emerging mediators in retina degeneration [PDF]

, 2019
The sphingolipids ceramide (Cer), sphingosine-1-phosphate (S1P), sphingosine (Sph), and ceramide-1-phosphate (C1P) are key signaling molecules that regulate major cellular functions.
Prado Spalm, Facundo Heber, Rotstein, Nora Patricia, Simon, Maria Victoria, Vera, Marcela Sonia   +3 more
core   +1 more source

Blue light regenerates functional visual pigments in mammals through a retinyl-phospholipid intermediate. [PDF]

, 2017
The light absorbing chromophore in opsin visual pigments is the protonated Schiff base of 11-cis-retinaldehyde (11cRAL). Absorption of a photon isomerizes 11cRAL to all-trans-retinaldehyde (atRAL), briefly activating the pigment before it dissociates ...
Fain, Gordon L, Hakobyan, Hayk, Ingram, Norianne T, Kaylor, Joanna J, Travis, Gabriel H, Tsan, Avian, Xu, Tongzhou   +6 more
core   +1 more source