Results 11 to 20 of about 62,782 (280)

A Novel N-Terminal <i>PRPF6</i> Variant in Autosomal Dominant Retinitis Pigmentosa. [PDF]

Clin Case Rep
ABSTRACT This report identifies the first N‐terminal PRPF6 variant (c.514C>T) as a cause of autosomal dominant Retinitis Pigmentosa. This novel variant is associated with progressive peripheral vision loss but notably preserved central visual acuity, suggesting a distinct phenotypic expression compared to C‐terminal variants.
Li N, Dang Y.
europepmc   +2 more sources

A rare case of senior loken syndrome

TNOA Journal of Ophthalmic Science and Research, 2020
Senior Loken syndrome is a rare autosomal recessive genetic disorder. This syndrome mainly targets kidney and eye. Nephronophthisis, a chronic kidney disorder, is the common renal manifestation of this syndrome.
Jaisingh Ramapriyadharshini, Krishnamurthy Ilango, Elango Vidhya   +2 more
doaj   +1 more source

Late capsular bag contraction and intraocular lens subluxation in retinitis pigmentosa: a case report

Journal of Medical Case Reports, 2011
Introduction Retinitis pigmentosa is clinically characterized by loss of predominantly rod photoreceptor function as well as loss of peripheral vision.
Tsai Frank F, Igbre Ann O, Najjar Dany M
doaj   +1 more source

Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study [PDF]

, 2018
The blockchain technology promises to transform finance, money and evengovernments. However, analyses of blockchain applicability and robustness typicallyfocus on isolated systems whose actors contribute mainly by running the consensusalgorithm. Here, we
A Hagiwara, A Schatz, AF Wright, AH Hariri, Andi Abeshi, Barbara Sala, BJ Keats, C Bunker, CA Adackapara, CO Pierrottet, CX Cai, DA Bessant, DB Farber, DG Birch, DT Hartong, E Strettoi, E Zrenner, F Testa, Fabio Patelli, GA Fishman, Giovanni Montesano, GM Acland, H Chung, H Hirakawa, H JR, HS Uy, J Sahel, JW Bainbridge, K Holopigian, L Dacruz, L Gränse, Leonardo Colombo, LH Lima, Luca Rossetti, M Haim, Matteo Bertelli, MS Humayun, Paolo Maltese, RP McNabb, S Bundey, S Grover, SG Jacobson, SP Daiger, T Léveillard, T Léveillard, T Sujirakul, V Busskamp, V Kitiratschky, VG Grigoropoulos, W Berger, W Seiple, Y He, Y Makiyama   +52 more
core   +1 more source

Retinal detachment in retinitis pigmentosa [PDF]

BMJ Open Ophthalmology, 2020
Objective Retinitis pigmentosa-related retinal detachment (RPRD) is rare, and the full spectrum of retinal complications is not well defined. To describe the types of retinal detachment in patients with retinitis pigmentosa and the surgical outcomes of RPRD. Methods
Weng Onn Chan, Nicholas Brennan, Andrew R Webster, Michel Michaelides, Mahiul M K Muqit   +4 more
openaire   +4 more sources

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]

, 2016
BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A, Bowne, Sara J, Clark, Michael J, Daiger, Stephen P, Garcia, Sarah, Gorin, Michael B, Martinez, Ariadna, Matynia, Anna, Parikh, Sachin, Strom, Samuel P, Sullivan, Lori S   +10 more
core   +11 more sources

Non-viral delivery and optimized optogenetic stimulation of retinal ganglion cells led to behavioral restoration of vision [PDF]

, 2012
Stimulation of retinal neurons using optogenetics via use of chanelrhodopsin-2 (ChR2) has opened up a new direction for restoration of vision for treatment of retinitis pigmentosa (RP).
Edward Wong, Ling Gu, Mathew Ficinski, Samarendra Mohanty, Samarendra Mohanty, Shivaranjani Shivalingaiah   +5 more
core   +2 more sources

Clinical disorders affecting mesopic vision [PDF]

, 2006
Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Abramowicz M., Ahmed F., Ahmed F., Al-Kubaisy W., Asrat Y., Ayyagari R., Baillie I., Bergen H. R., Berson E., Bloem M., Bordley J., Bret-Dibat C., Brink E., Burstedt M., Burstedt M., Capon M., Carr R., Carr R., Chisholm C., Christian P., Cunier F., de Pee S., DOG, Donnen P., Duke-Elder S., Fishman G., Fuchs A., Fuchs A., Gross-Jendroska M., Guy J., Haidar J., Hartmann E., Hayashi T., Hayashi T., Heckenlively J., Kalloniatis M., Kamei M., Kellner U., Kolling G., Lauber H., Lei B., Lorenz B., Main A., Marmor M., Marmor M., McBain V., Mele L., Milam A., Miyake Y., Miyake Y., Miyake Y., Mizuo A., Morimura H., Nabakwe E., Nettleship E., Oguchi C., Onder C., Parker W., Perlman I., Pesudovs K., Phelan J., Polans A., Polkinghorne P., Ramalho R., Reiner J., Resnikoff S., Ripps H., Rosen D., Rosen D., Rougier M., Ruiz-Martin M., Saunders C., Sawyer R., Schaumberg D., Schemann J., Schlote T., Schubert G., Sharp D., Shaw C., Skinner H., Smith R. A. J., Sommer A., Somner A., Sorsby A., Souied E., Spalton D., Stephenson S., Stockman A., Tabata Y., Takeuchi T., Taren D., Thirkill C., Tielsch J., Underwood B., Uyemura M., Weinstein J., Weiss J., Weiss N., Wolf G., Wolf G., Wolfe J. E.   +100 more
core   +1 more source

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. [PDF]

, 2016
To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the
Akram, Javed, Ayyagari, Radha, Gottsch, Clare Brooks S, Guru, Aditya A, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +9 more
core   +2 more sources

Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins [PDF]

, 2020
Background Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the ...
Aramburu, Ana, Bhatia, Vaibhav, Bhattacharya, Shom S, Calado, Sofia, Chakarova, Christina, de la Cerda, Berta, Diez-Lloret, Andrea, Díaz-Corrales, Francisco J, García-Delgado, Ana B, Massalini, Simone, Montero-Sánchez, Adoración, Rodríguez-Bocanegra, Eduardo, Rodríguez-Martínez, Daniel, Valdés-Sánchez, Lourdes   +13 more
core   +2 more sources