Works matching Retinitis pigmentosa

Results: 4498

Retinitis Pigmentosa Olgusunda Bilateral Retrobulber Optik Nörit.

Published in:

MN Opthalmology / MN Oftalmoloji, 2023, v. 30, n. 2, p. 140

By:

ORUZ, Oğuzhan;
PELİT, Aysel;
EROL, İlknur

Publication type:

Article

Caracterización fenotípica de la retinitis pigmentosa asociada a sordera.

Published in:

Biomédica: Revista del Instituto Nacional de Salud, 2022, v. 42, p. 1

By:

Camila Paredes, Ángela;
López, Greizy;
Gelvez, Nancy;
Lucía Tamayo, Marta

Publication type:

Article

Respuesta inmune frente a antígenos de retina en pacientes con retinitis pigmentosa y síndrome de Usher.

Published in:

Universitas Médica, 2009, v. 50, n. 1, p. 20

By:

GÓMEZ, ALBERTO;
ROMERO, MARÍA CONSUELO;
TAMAYO, MARTALUCÍA

Publication type:

Article

The Evaluation of Peripapillary Retinal Nerve Fiber Layer Thickness Changes in Patients with Retinitis Pigmentosa and Patients with Early-Late Stage Glaucoma.

Published in:

Gazi Medical Journal, 2022, v. 33, n. 4, p. 365, doi. 10.12996/gmj.2022.82

By:

Zor, Kürşad Ramazan;
Küçük, Erkut;
Biçer, Gamze Yıldırım;
Kıvrak, Ulviye

Publication type:

Article

Retinitis Pigmentosa Hastalarında Statik ve Dinamik Pupillometri Sonuçları.

Published in:

MN Opthalmology / MN Oftalmoloji, 2025, v. 32, n. 1, p. 10

By:

ALTAŞ, Fatma Büşra;
ÖZDEMİR YALÇINSOY, Kübra

Publication type:

Article

Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 4, p. 355, doi. 10.1016/j.ejmhg.2015.03.003

By:

Mebed, Reem;
Ali, Yasser B. M.;
Solouma, Nahed;
Eldib, Amr;
Amer, Mahmoud;
Osman, Ahmed

Publication type:

Article

Bilateral Makula Kolobomu ve Retinitis Pigmentoza Birlikteliği.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2007, v. 15, n. 4, p. 301

By:

Yaman, Aylin;
Barut Selver, Özlem;
Özbek, Zeynep;
berk, A. Tülin

Publication type:

Article

Association Between Bietti Crystalline Fundus Dystrophy and Retinitis Pigmentosa.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2011, v. 19, n. 3, p. 209

By:

ARTUNAY, Özgür;
ŞENEL, Amber;
ŞENGÜL, Alper;
RASIER, Rifat;
YÜZBAŞIOĞLU, Erdal;
BAHÇECIOĞLU, Halil

Publication type:

Article

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa.

Published in:

Genes, 2021, v. 12, n. 12, p. 1853, doi. 10.3390/genes12121853

By:

Ballios, Brian G.;
Place, Emily M.;
Martinez-Velazquez, Luis;
Pierce, Eric A.;
Comander, Jason I.;
Huckfeldt, Rachel M.

Publication type:

Article

The Genetic Basis of Pericentral Retinitis Pigmentosa--A Form of Mild Retinitis Pigmentosa.

Published in:

Genes, 2017, v. 8, n. 10, p. 256, doi. 10.3390/genes8100256

By:

Comander, Jason;
Weigel-DiFranco, Carol;
Maher, Matthew;
Place, Emily;
Wan, Aliete;
Harper, Shyana;
Sandberg, Michael A.;
Navarro-Gomez, Daniel;
Pierce, Eric A.

Publication type:

Article

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.

Published in:

Medicina (1010660X), 2024, v. 60, n. 5, p. 797, doi. 10.3390/medicina60050797

By:

Piergentili, Marco;
Spagnuolo, Vito;
Murro, Vittoria;
Mucciolo, Dario Pasquale;
Giorgio, Dario;
Passerini, Ilaria;
Pelo, Elisabetta;
Giansanti, Fabrizio;
Virgili, Gianni;
Sodi, Andrea

Publication type:

Article

Coexistence of Retinis Pigmentosa and Posterior Staphyloma: Case Series.

Published in:

Retina-Vitreus/Journal of Retina-Vitreous, 2019, v. 28, n. 2, p. 198

By:

KIZILTOPRAK, Hasan;
GÜLPAMUK, Bayram;
TEKİN, Kemal;
TEKE, Mehmet Yasin

Publication type:

Article

Retinose pigmentar unilateral ou pseudorretinose pigmentar?: relato de caso.

Published in:

Arquivos Brasileiros de Oftalmologia, 2013, v. 76, n. 6, p. 383, doi. 10.1590/S0004-27492013000600015

By:

DE CARVALHO RIOS, DANIELA FERNANDES;
DA SILVA ALVES CARNEIRO, LUIS FELIPE;
DA CUNHA, ALINE AMARAL FULGÊNCIO;
DALLE, CARLOS BERNARDO MOURA;
FRASSON, MARIA

Publication type:

Article

Implante intravítreo de liberação crônica de dexametasona (Ozurdex®) para o tratamento de edema macular por retinose pigmentar: relato de caso.

Published in:

Arquivos Brasileiros de Oftalmologia, 2013, v. 76, n. 6, p. 377, doi. 10.1590/S0004-27492013000600013

By:

BUCHAIM, GUILHERME;
REZENDE, MARCUSSI PALATA;
MAIA, MAURÍCIO

Publication type:

Article

The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 5, p. 989, doi. 10.1007/s10815-019-01434-9

By:

Huang, Xinghua;
Liu, Yun;
Yu, Xiurong;
Huang, Qiuxiang;
Lin, Chunli;
Zeng, Jian;
Lan, Fenghua;
Wang, Zhihong

Publication type:

Article

A case series study on exploring the role of HLA B27 among patients with retinitis pigmentosa and uveitis and short-term treatment response.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2025, n. 2, p. 28, doi. 10.31288/oftalmolzh202522833

By:

M., Viswanathan;
O., Zborovska;
O. Y., Jones;
V., Kolesnichenko;
O., Dorokhova

Publication type:

Article

A Review of Non-Syndromic Retinitis Pigmentosa, Ocular Associations in Jordanian Population Study.

Published in:

Jordan Medical Journal, 2018, v. 52, n. 4, p. 203

By:

Abu-Ameerh, Mohammed A.;
Al-Bdour, Muawyah D.;
Al Amer, Asma;
Hiasat, Jamila;
Muhtaseb, Ruba;
Zayed, Ahlam;
AlRyalat, Saif Aldeen

Publication type:

Article

Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa.

Published in:

Ophthalmic Epidemiology, 2018, v. 25, n. 3, p. 183, doi. 10.1080/09286586.2017.1383448

By:

Liew, Gerald;
Moore, Anthony T;
Bradley, Patrick D.;
Webster, Andrew R;
Michaelides, Michel

Publication type:

Article

Health Behaviors of People with Retinitis Pigmentosa in the Republic of Korea.

Published in:

Ophthalmic Epidemiology, 2014, v. 21, n. 5, p. 279, doi. 10.3109/09286586.2014.926939

By:

An, Ah Reum;
Shin, Dong Wook;
Kim, Sarah;
Lee, Choong Hyung;
Park, Jong Hyock;
Park, Jong Heon;
Oh, Moo Kyung;
Hwang, Soo Hee;
Kim, Yoon;
Cho, Belong

Publication type:

Article

Prevalence of Retinitis Pigmentosa in South Indian Population Aged Above 40 Years.

Published in:

Ophthalmic Epidemiology, 2008, v. 15, n. 4, p. 279, doi. 10.1080/09286580802105814

By:

Sen, Parveen;
Bhargava, Arun;
George, Ronnie;
Ramesh, S. Ve;
Hemamalini, Arvind;
Prema, Raju;
Kumaramanickavel, Govindasamy;
Vijaya, Lingam

Publication type:

Article

SCAPER -Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.

Published in:

Genes, 2024, v. 15, n. 6, p. 791, doi. 10.3390/genes15060791

By:

Sharkia, Rajech;
Zalan, Abdelnaser;
Kessel, Amit;
Al-Shareef, Wasif;
Zahalka, Hazar;
Hengel, Holger;
Schöls, Ludger;
Azem, Abdussalam;
Mahajnah, Muhammad

Publication type:

Article

Syndromic Retinitis Pigmentosa: A 15-Patient Study.

Published in:

Genes, 2024, v. 15, n. 4, p. 516, doi. 10.3390/genes15040516

By:

Holanda, Ianne Pessoa;
Rim, Priscila Hae Hyun;
Guaragna, Mara Sanches;
Gil-da-Silva-Lopes, Vera Lúcia;
Steiner, Carlos Eduardo

Publication type:

Article

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31 -Associated Retinitis Pigmentosa in a Danish Cohort.

Published in:

Genes, 2023, v. 14, n. 2, p. 435, doi. 10.3390/genes14020435

By:

Lisbjerg, Kristian;
Grønskov, Karen;
Bertelsen, Mette;
Møller, Lisbeth Birk;
Kessel, Line

Publication type:

Article

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.

Published in:

Genes, 2021, v. 12, n. 4, p. 537, doi. 10.3390/genes12040537

By:

Zhang, Lujia;
Li, Ya;
Qin, Litao;
Wu, Yu;
Lei, Bo

Publication type:

Article

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Published in:

Genes, 2020, v. 11, n. 12, p. 1497, doi. 10.3390/genes11121497

By:

Downes, Susan M.;
Nguyen, Tham;
Tai, Vicky;
Broadgate, Suzanne;
Shah, Mital;
Al-Khuzaei, Saoud;
MacLaren, Robert E.;
Shanks, Morag;
Clouston, Penny;
Halford, Stephanie

Publication type:

Article

Intermediate uveitis in retinitis pigmentosa associated with a novel homozygous splice site mutation in PRPF8.

Published in:

2022

By:

Badawi, Abdulrahman;
Magliyah, Moustafa;
Schatz, Patrik;
Al-Shehri, Abdulaziz;
Alabdullah, Abdulelah

Publication type:

Case Study

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 155, doi. 10.1038/sj.ejhg.5200942

By:

Conte, Ivan;
Lestingi, Marta;
den Hollander, Anneke;
Alfano, Giovanna;
Ziviello, Carmela;
Pugliese, Mariarosaria;
Circolo, Diego;
Caccioppoli, Cristina;
Ciccodicola, Alfredo;
Banfi, Sandro

Publication type:

Article

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts ( PHARC) screening in an Italian population.

Published in:

European Journal of Neurology, 2013, v. 20, n. 4, p. e60, doi. 10.1111/ene.12056

By:

Criscuolo, C.;
Guacci, A.;
Carbone, R.;
Lieto, M.;
Salsano, E.;
Nanetti, L.;
De Michele, G.;
Filla, A.

Publication type:

Article

Retinitis Pigmentosa: From Pathomolecular Mechanisms to Therapeutic Strategies.

Published in:

Medicina (1010660X), 2024, v. 60, n. 1, p. 189, doi. 10.3390/medicina60010189

By:

Vingolo, Enzo Maria;
Mascolo, Simona;
Miccichè, Filippo;
Manco, Gregorio

Publication type:

Article

Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study.

Published in:

2018

By:

Anil, Krithika;
Garip, Gulcan

Publication type:

journal article

Influence of Systematic Gaze Patterns in Navigation and Search Tasks with Simulated Retinitis Pigmentosa.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 223, doi. 10.3390/brainsci11020223

By:

Neugebauer, Alexander;
Stingl, Katarina;
Ivanov, Iliya;
Wahl, Siegfried;
Pollmann, Stefan

Publication type:

Article

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.

Published in:

Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1240067

By:

Young Hoon Jung;
Jay Jiyong Kwak;
Kwangsic Joo;
Hyuk Jun Lee;
Kyu Hyung Park;
Min Seok Kim;
Eun Kyoung Lee;
Suk Ho Byeon;
Seungkyu Lee, Christopher;
Jinu Han;
Junwon Lee;
Chang Ki Yoon;
Se Joon Woo

Publication type:

Article

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00319

By:

You, Chunlin;
Zeng, Weike;
Deng, Lingna;
Lei, Zhihao;
Gao, Xinyi;
Zhang, Victor Wei;
Wang, Yidong

Publication type:

Article

A Case Report of Vogt's Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association.

Published in:

Case Reports in Ophthalmology, 2015, v. 6, n. 3, p. 311, doi. 10.1159/000439265

By:

Vignesh, A.P.;
Srinivasan, Renuka;
Karanth, Swathi;
Vijitha, Sai

Publication type:

Article

Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene.

Published in:

2021

By:

Guardiola, Gabriel;
Ramos, Fabiola;
Izquierdo, Natalio

Publication type:

Case Study

Bone-spicule pattern in retinitis pigmentosa.

Published in:

Acta Ophthalmologica Polonica / Klinika Oczna, 2024, v. 126, n. 4, p. 173, doi. 10.5114/ko.2024.146040

By:

Eder, Krzysztof;
Leszczyński, Rafał;
Mrukwa-Kominek, Ewa;
Langosz, Paulina;
Sirek, Sebastian

Publication type:

Article

Macular abnormalities in retinitis pigmentosa. Management and treatment.

Published in:

Acta Ophthalmologica Polonica / Klinika Oczna, 2024, v. 126, n. 2, p. 59, doi. 10.5114/ko.2024.139668

By:

Durajczyk, Magdalena;
Seredyńska, Katarzyna;
Lubiński, Wojciech

Publication type:

Article

The Retinitis Pigmentosa 1 Protein Is a Photoreceptor Microtubule-Associated Protein.

Published in:

Journal of Neuroscience, 2004, v. 24, n. 29, p. 6427, doi. 10.1523/JNEUROSCI.1335-04.2004

By:

Qin Liu;
Jian Zuo;
Pierce, Eric A.

Publication type:

Article

A novel missense RP1 mutation in retinitis pigmentosa.

Published in:

Eye (0950-222X), 2006, v. 20, n. 5, p. 602, doi. 10.1038/sj.eye.6701944

By:

Chiang, S. W. Y.;
Wang, D. Y.;
Chan, W. M.;
Tam, P. O. S.;
Chong, K. K. L.;
Lam, D. S. C.;
Pang, C. P.

Publication type:

Article

Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.

Published in:

Neuropathology, 2024, v. 44, n. 2, p. 87, doi. 10.1111/neup.12936

By:

Li, Zhenyu;
Li, Yize;
Chu, Xujun;
Du, Kang;
Tang, Yuwei;
Xie, Zhiying;
Yu, Meng;
Deng, Jianwen;
Lv, He;
Zhang, Wei;
Wang, Zhaoxia;
Meng, Lingchao;
Yuan, Yun

Publication type:

Article

RRH, Encoding the RPE-Expressed Opsin-Like Peropsin, Is Not Mutated in Retinitis Pigmentosa and Allied Diseases.

Published in:

Ophthalmic Genetics, 2007, v. 28, n. 1, p. 31, doi. 10.1080/13816810701202052

By:

Ksantini, Mohamed;
Sénéchal, Audrey;
Humbert, Ghyslaine;
Arnaud, Bernard;
Hamel, Christian P.

Publication type:

Article

Update on the molecular genetics of retinitis pigmentosa.

Published in:

Ophthalmic Genetics, 2001, v. 22, n. 3, p. 133, doi. 10.1076/opge.22.3.133.2224

By:

Wang, Qing;
Chen, Qiuyun;
Zhao, Kanxing;
Wang, Li;
Wang, Lejin;
Traboulsi, Elias I.

Publication type:

Article

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa.

Published in:

Clinical Genetics, 2022, v. 102, n. 6, p. 524, doi. 10.1111/cge.14207

By:

Dvaladze, Anna;
Tavares, Erika;
Di Scipio, Matteo;
Nimmo, Graeme;
Grudzinska‐Pechhacker, Monika K.;
Paton, Tara;
Tumber, Anupreet;
Li, Shuning;
Eileen, Christabel;
Ertl‐Wagner, Birgit;
Mamak, Eva;
Hoffmann, Georg;
Marshall, Christian R.;
Haas, Dorothea;
Mayatepek, Ertan;
Schulze, Andreas;
Heon, Elise;
Vincent, Ajoy

Publication type:

Article

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Published in:

Clinical Genetics, 2013, v. 84, n. 2, p. 150, doi. 10.1111/cge.12196

By:

Coussa, R G;
Otto, E A;
Gee, H‐Y;
Arthurs, P;
Ren, H;
Lopez, I;
Keser, V;
Fu, Q;
Faingold, R;
Khan, A;
Schwartzentruber, J;
Majewski, J;
Hildebrandt, F;
Koenekoop, R K

Publication type:

Article

Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

Published in:

Clinical Genetics, 2012, v. 82, n. 5, p. 446, doi. 10.1111/j.1399-0004.2011.01796.x

By:

Hernan, I;
Gamundi, MJ;
Borràs, E;
Maseras, M;
García-Sandoval, B;
Blanco-Kelly, F;
Ayuso, C;
Carballo, M

Publication type:

Article

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

Published in:

International Journal of Neuroscience, 2015, v. 125, n. 1, p. 43, doi. 10.3109/00207454.2014.904858

By:

Shaibani, Aziz;
Wong, Lee-Jun;
Wei Zhang, Victor;
Lewis, Richard Alan;
Shinawi, Marwan

Publication type:

Article

Mice deficient in UXT exhibit retinitis pigmentosa-like features via aberrant autophagy activation.

Published in:

Autophagy, 2021, v. 17, n. 8, p. 1873, doi. 10.1080/15548627.2020.1796015

By:

Pan, Mingyu;
Yin, Yue;
Wang, Xinxia;
Wang, Quanyi;
Zhang, Lele;
Hu, Haiyang;
Wang, Chen

Publication type:

Article

Effects of Antipsychotic Drugs Haloperidol and Clozapine on Visual Responses of Retinal Ganglion Cells in a Rat Model of Retinitis Pigmentosa.

Published in:

2016

By:

Jensen, Ralph J.

Publication type:

journal article

Subfoveal Choroidal Thickness Measured By Swept Source OCT in Retinitis Pigmentosa Patients.

Published in:

QJM: An International Journal of Medicine, 2020, v. 113, p. i182, doi. 10.1093/qjmed/hcaa058.009

By:

Mahmoud, Y. M.;
Eliwa, T. F.;
Elmofty, H. M.;
Elmaamoun, T. A.

Publication type:

Article

Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.

Published in:

2019

By:

Zhang, Zhimeng;
Dai, Hehua;
Wang, Lei;
Tao, Tianchang;
Xu, Jing;
Sun, Xiaowei;
Yang, Liping;
Li, Genlin

Publication type:

journal article