Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa.

Authors: Kominami, Taro¹ (AUTHOR) taro.kominami@gmail.com, Tan, Tien-En² (AUTHOR), Ushida, Hiroaki¹ (AUTHOR), Jain, Kanika³ (AUTHOR), Goto, Kensuke¹ (AUTHOR), Bylstra, Yasmin M.⁴ (AUTHOR), Sajiki, Ai Fujita^1,5 (AUTHOR), Mathur, Ranjana S.² (AUTHOR), Ota, Junya¹ (AUTHOR), Lim, Weng Khong⁴ (AUTHOR), Nishiguchi, Koji M¹ (AUTHOR), Fenner, Beau J.² (AUTHOR) taro.kominami@gmail.com

Source: PLoS ONE. 2/19/2025, Vol. 20 Issue 2, p1-12. 12p.

Subject Terms: *LOGISTIC regression analysis, *RETINITIS pigmentosa, *BIOFLUORESCENCE, *GENETICISTS, *COHORT analysis

Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.

Authors: Ortega, Joseph T.¹ (AUTHOR), Gallagher, Jacklyn M.^2,3 (AUTHOR), McKee, Andrew G.³ (AUTHOR), Tang, Yidan⁴ (AUTHOR), Carmena-Bargueňo, Miguel⁵ (AUTHOR), Azam, Maria¹ (AUTHOR), Pashandi, Zaiddodine¹ (AUTHOR), Golczak, Marcin¹ (AUTHOR), Meiler, Jens^4,6,7 (AUTHOR), Pérez-Sánchez, Horacio⁵ (AUTHOR), Schlebach, Jonathan P.² (AUTHOR), Jastrzebska, Beata¹ (AUTHOR) bxj27@case.edu

Source: PLoS Biology. 1/14/2025, Vol. 23 Issue 1, p1-34. 34p.

Subject Terms: *RETINITIS pigmentosa, *VIRTUAL high-throughput screening (Drug development), *RHODOPSIN, *LIGANDS (Biochemistry), *PROTEIN structure, *PHOTORECEPTORS

Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.

Authors: Sridhar, Subbiah¹ (AUTHOR) drsridharjipmer@gmail.com, Palanivel, Sengottaiyan¹ (AUTHOR), Senthilkumar, Jayachandran² (AUTHOR), Kavitha, Kanagasabapathy³ (AUTHOR), Geethaanjali, Varadarajan⁴ (AUTHOR), Vasanthiy, Natarajan¹ (AUTHOR), Dharmaraj, Chelliah⁵ (AUTHOR)

Source: Indian Journal of Endocrinology & Metabolism. Jan/Feb2025, Vol. 29 Issue 1, p89-94. 6p.

Subject Terms: *SYMPTOMS, *RETINITIS pigmentosa, *LEARNING disabilities, *MOLECULAR genetics, *DEVELOPMENTAL delay

Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies.

Authors: Azam, Maria¹ (AUTHOR), Jastrzebska, Beata^1,2 (AUTHOR) bxj27@case.edu

Source: Cells (2073-4409). Jan2025, Vol. 14 Issue 1, p49. 33p.

Subject Terms: *UNFOLDED protein response, *RETINITIS pigmentosa, *GENETIC mutation, *RETINAL degeneration, *GENETIC disorders, *PHOTORECEPTORS

Macular Alterations in a Cohort of Caucasian Patients Affected by Retinitis Pigmentosa.

Authors: Nebbioso, Marcella¹ (AUTHOR) elvia.mastrogiuseppe@uniroma1.it, Mastrogiuseppe, Elvia¹ (AUTHOR) eleonora.gnolfo@uniroma1.it, Gnolfo, Eleonora¹ (AUTHOR) marco.artico@uniroma1.it, Artico, Marco¹ (AUTHOR) antonietta.moramarco@uniroma1.it, Moramarco, Antonietta¹ (AUTHOR) fabiana.mallone@uniroma1.it, Mallone, Fabiana¹ (AUTHOR) alessandro.lambiase@uniroma1.it, Taurone, Samanta² (AUTHOR) t.samanta@yahoo.it, Vestri, Annarita³ (AUTHOR) annarita.vestri@uniroma1.it, Lambiase, Alessandro¹ (AUTHOR)

Source: Diagnostics (2075-4418). Nov2024, Vol. 14 Issue 21, p2409. 13p.

Subject Terms: *OPTICAL coherence tomography, *RETINITIS pigmentosa, *MACULAR edema, *RETINAL degeneration, *VISION disorders

Synthesis and Evaluation of Glucosyl-, Acyl- and Silyl- Resveratrol Derivatives as Retinoprotective Agents: Piceid Octanoate Notably Delays Photoreceptor Degeneration in a Retinitis Pigmentosa Mouse Model.

Authors: Valdés-Sánchez, Lourdes¹ (AUTHOR) lourdes.valdes@cabimer.es, Moshtaghion, Seyed Mohamadmehdi¹ (AUTHOR) mehdi.moshtaghion@cabimer.es, Caballano-Infantes, Estefanía¹ (AUTHOR) estefania.caballano@cabimer.es, Peñalver, Pablo² (AUTHOR) pablo@ipb.csic.es, Rodríguez-Ruiz, Rosario² (AUTHOR) rosariorodriguezruiz@hotmail.com, González-Alfonso, José Luis³ (AUTHOR) josel.g@csic.es, Plou, Francisco José³ (AUTHOR) fplou@icp.csic.es, Desmet, Tom⁴ (AUTHOR) tom.desmet@ugent.be, Morales, Juan C.² (AUTHOR) jcmorales@ipb.csic.es, Díaz-Corrales, Francisco J.¹ (AUTHOR) jcmorales@ipb.csic.es

Source: Pharmaceuticals (14248247). Nov2024, Vol. 17 Issue 11, p1482. 21p.

Subject Terms: *RETINITIS pigmentosa, *RETINAL degeneration, *NEURODEGENERATION, *PHOTORECEPTORS, *GENE therapy, *RESVERATROL

Therapeutic potential of archaeal unfoldase PAN^et and the gateless T20S proteasome in P23H rhodopsin retinitis pigmentosa mice.

Authors: Brooks, Celine^1,2 (AUTHOR), Kolson, Douglas¹ (AUTHOR), Sechrest, Emily¹ (AUTHOR), Chuah, Janelle² (AUTHOR), Schupp, Jane² (AUTHOR), Billington, Neil² (AUTHOR), Deng, Wen-Tao^1,2 (AUTHOR), Smith, David^2,3 (AUTHOR), Sokolov, Maxim^1,2,3 (AUTHOR) msokolov@hsc.wvu.edu

Source: PLoS ONE. 10/3/2024, Vol. 19 Issue 10, p1-18. 18p.

Subject Terms: *RETINITIS pigmentosa, *PROTEOLYSIS, *NEURODEGENERATION, *VISION disorders, *PROTEASOMES, *RHODOPSIN

Housing RCS rats under specific pathogen-free conditions mildly ameliorates retinal degeneration and alters intestine microbiota.

Authors: Ketter-Katz, Hadas^1,2 (AUTHOR), Saeed, Rawan^1,2 (AUTHOR), Sher, Ifat^1,2,3 (AUTHOR), Altmann, Gali^1,2 (AUTHOR), Shadi, Tal^1,2 (AUTHOR), Dallasheh, Shada^1,2 (AUTHOR), Lustig-Barzelay, Yael¹ (AUTHOR), Sabo, Amit¹ (AUTHOR), Jejelava, George^1,4 (AUTHOR), Hadar, Rotem⁵ (AUTHOR), Efroni, Gilat⁵ (AUTHOR), Amir, Amnon⁵ (AUTHOR), Braun, Tzipi⁵ (AUTHOR), Haberman, Yael^5,6 (AUTHOR) Yael.Habermlan@sheba.health.gov.il, Rotenstreich, Ygal^1,2,7 (AUTHOR) ygal.Rotenstreich@sheba.health.gov.il

Source: Scientific Reports. 9/16/2024, Vol. 14 Issue 1, p1-14. 14p.

Subject Terms: *LABORATORY rats, *RETINITIS pigmentosa, *RETINAL degeneration, *RATTUS rattus, *GUT microbiome

Current management of inherited retinal degenerations in Portugal (IRD-PT survey).

Authors: Marques, João Pedro^1,2 (AUTHOR) marquesjoaopedro@gmail.com, Ferreira, Nuno³ (AUTHOR), Moreno, Natacha⁴ (AUTHOR), Marta, Ana⁵ (AUTHOR), Vaz-Pereira, Sara⁶ (AUTHOR), Estrela-Silva, Sérgio⁷ (AUTHOR), Costa, José⁸ (AUTHOR), Cardoso, Ana Rocha⁹ (AUTHOR), Neves, Pedro¹⁰ (AUTHOR), Duarte, Lilianne¹¹ (AUTHOR), Meira, Dália¹² (AUTHOR), Pires, Joana¹³ (AUTHOR), Menezes, Carlos¹⁴ (AUTHOR), Rodrigues, Filipa¹⁵ (AUTHOR), Arede, Pedro¹⁶ (AUTHOR), Coutinho, André¹⁷ (AUTHOR), Cabral, Diogo¹⁸ (AUTHOR), Coutinho, Inês¹⁹ (AUTHOR), Ribeiro, Miguel²⁰ (AUTHOR), Macedo, Marta²¹ (AUTHOR)

Source: Scientific Reports. 9/14/2024, Vol. 14 Issue 1, p1-10. 10p.

Subject Terms: *MEDICAL personnel, *RETINITIS pigmentosa, *RETINAL degeneration, *GENETIC testing, *VISION disorders

Prognostic Significance of Elevated UCHL1, SNRNP200, and PAK4 Expression in High-Grade Clear Cell Renal Cell Carcinoma: Insights from LC-MS/MS Analysis and Immunohistochemical Validation.

Authors: Kasperczak, Michał¹ (AUTHOR) mkasperczakmd@gmail.com, Bromiński, Gabriel¹ (AUTHOR), Kołodziejczak-Guglas, Iga² (AUTHOR), Antczak, Andrzej¹ (AUTHOR), Wiznerowicz, Maciej^1,2,3 (AUTHOR)

Source: Cancers. Aug2024, Vol. 16 Issue 16, p2844. 14p.

Subject Terms: *RETINITIS pigmentosa, *CELL proliferation, *MANN Whitney U Test, *DESCRIPTIVE statistics, *GENE expression, *IMMUNOHISTOCHEMISTRY, *KAPLAN-Meier estimator, *LOG-rank test, *RENAL cell carcinoma, *PROTEOMICS, *LIQUID chromatography, *CELL survival, *PROGRESSION-free survival, *CONFIDENCE intervals, *DATA analysis software, *OVERALL survival

The Formation and Renewal of Photoreceptor Outer Segments.

Authors: Xu, Jingjin^1,2 (AUTHOR) 13969737352@163.com, Zhao, Chengtian^1,2 (AUTHOR) chengtian_zhao@ouc.edu.cn, Kang, Yunsi^1,2 (AUTHOR) kangyunsi@ouc.edu.cn

Source: Cells (2073-4409). Aug2024, Vol. 13 Issue 16, p1357. 17p.

Subject Terms: *RETINITIS pigmentosa, *RETINAL diseases, *GENETIC disorders, *OPSINS, *PHAGOSOMES, *PHOTORECEPTORS

Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.

Authors: Wang, Junwen^1,2 (AUTHOR), Wang, Yingwei¹ (AUTHOR), Jiang, Yi¹ (AUTHOR), Li, Shiqiang¹ (AUTHOR), Jia, Xiaoyun¹ (AUTHOR), Xiao, Xueshan¹ (AUTHOR), Sun, Wenmin¹ (AUTHOR), Wang, Panfeng¹ (AUTHOR), Zhang, Qingjiong¹ (AUTHOR) zhangqji@mail.sysu.edu.cn

Source: Current Eye Research. Aug2024, Vol. 49 Issue 8, p853-861. 9p.

Subject Terms: *GENETIC variation, *RETINITIS pigmentosa, *MISSENSE mutation, *COMPARATIVE genomics, *RETINAL diseases

Correlations between the Michigan Retinal Degeneration Questionnaire and visual function parameters in patients with retinitis pigmentosa.

Authors: Karuntu, J. S.¹ (AUTHOR), Nguyen, X. T.¹ (AUTHOR), Boon, C. J. F.^1,2 (AUTHOR) camiel.boon@amsterdamumc.nl

Source: Acta Ophthalmologica (1755375X). Aug2024, Vol. 102 Issue 5, p555-563. 9p.

Subject Terms: *VISION, *RETINITIS pigmentosa, *RETINAL degeneration, *CONTRAST sensitivity (Vision), *VISUAL acuity

Understanding the relationship between pachychoroid spectrum disorders and retinitis pigmentosa: A review of the evidence.

Authors: Chavan, Kasturi¹, Chhablani, Jay², Jalali, Subhadra³, Padhy, Srikanta Kumar¹ srikanta.padhy@lvpei.org

Source: Indian Journal of Ophthalmology. Jul2024, Vol. 72 Issue 7, p956-961. 6p.

Subject Terms: *CHOROID, *RETINITIS pigmentosa, *RHODOPSIN, *DYSTROPHY, *POLYPOIDAL choroidal vasculopathy

Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.

Authors: Hiraoka, Masakazu^1,2 (AUTHOR) hiraoka@vision-care.jp, Urakawa, Yusaku^1,3 (AUTHOR), Kawai, Kanako¹ (AUTHOR), Yoshida, Akiko¹ (AUTHOR), Hosakawa, Junichi⁴ (AUTHOR), Takazawa, Masaki⁴ (AUTHOR), Inaba, Akira¹ (AUTHOR), Yokota, Satoshi^1,3 (AUTHOR), Hirami, Yasuhiko^1,3 (AUTHOR), Takahashi, Masayo^1,5,6 (AUTHOR), Ohara, Osamu⁴ (AUTHOR), Kurimoto, Yasuo^1,3 (AUTHOR), Maeda, Akiko^1,3,6 (AUTHOR)

Source: PLoS ONE. 6/24/2024, Vol. 19 Issue 6, p1-10. 10p.

Subject Terms: *RETINITIS pigmentosa, *NUCLEOTIDE sequencing, *DNA copy number variations, *RETINAL degeneration, *GENETIC disorder diagnosis, *FALSE positive error

Stress and sleep deprivation-related biomarkers in saliva in patients with retinitis pigmentosa.

Authors: Mateos-Olivares, Milagros^1,2 (AUTHOR), Pastor-Idoate, Salvador^2,3,4 (AUTHOR), Martín-Vallejo, Javier⁵ (AUTHOR), García-Vazquez, Cristina³ (AUTHOR), Pastor, José Carlos^3,4 (AUTHOR), Usategui-Martín, Ricardo^3,4,6 (AUTHOR) rusateguim@ioba.med.uva.es, Sobas, Eva María^3,4,7 (AUTHOR) rusateguim@ioba.med.uva.es

Source: PLoS ONE. 6/13/2024, Vol. 19 Issue 6, p1-16. 16p.

Subject Terms: *DROWSINESS, *RETINITIS pigmentosa, *SLEEP deprivation, *BIOMARKERS, *SALIVA, *PSYCHOLOGICAL factors, *SLEEP

RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.

Authors: Parameswarappa, Deepika C.¹ (AUTHOR), Bagga, Deepak Kumar² (AUTHOR), Upadhyaya, Abhishek¹ (AUTHOR), Balasubramanian, Jeyapoorani³ (AUTHOR), Pochaboina, Venkatesh³ (AUTHOR), Muthineni, Vani⁴ (AUTHOR), Jalali, Subhadra¹ (AUTHOR), Kannabiran, Chitra⁴ (AUTHOR) chitra@lvpei.org

Source: Ophthalmic Genetics. Jun2024, Vol. 45 Issue 3, p303-312. 10p.

Subject Terms: *STOP codons, *RETINITIS pigmentosa, *RETINAL degeneration, *RETINAL diseases, *RHODOPSIN, *DYSTROPHY, *OPTIC disc

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes.

Authors: Wawrocka, Anna¹ (AUTHOR) aniawawrocka@ump.edu.pl, Walczak-Sztulpa, Joanna¹ (AUTHOR) kuszel@ump.edu.pl, Kuszel, Lukasz¹ (AUTHOR) askorczyk@ump.edu.pl, Niedziela-Schwartz, Zuzanna² (AUTHOR) z.niedziela@gmail.com, Skorczyk-Werner, Anna¹ (AUTHOR) mrkrawcz@ump.edu.pl, Bernardczyk-Meller, Jadwiga³ (AUTHOR) jbmeller@poczta.onet.pl, Krawczynski, Maciej R.^1,4 (AUTHOR)

Source: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5759. 12p.

Subject Terms: *RETINITIS pigmentosa, *ATAXIA, *SYMPTOMS, *GENETIC disorders, *CEREBELLAR ataxia, *RETROLENTAL fibroplasia

Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.

Authors: Fernández-Suárez, Elena^1,2 (AUTHOR), González-del Pozo, María^1,2 (AUTHOR), Méndez-Vidal, Cristina^1,2 (AUTHOR), Martín-Sánchez, Marta^1,2 (AUTHOR), Mena, Marcela^1,2 (AUTHOR), de la Morena-Barrio, Belén³ (AUTHOR), Corral, Javier³ (AUTHOR), Borrego, Salud^1,2 (AUTHOR) salud.borrego.sspa@juntadeandalucia.es, Antiñolo, Guillermo^1,2 (AUTHOR) gantinolo@us.es

Source: Mobile DNA. 5/4/2024, Vol. 15 Issue 1, p1-12. 12p.

Subject Terms: *RETINITIS pigmentosa, *GENETIC disorder diagnosis, *DNA insertion elements, *HETEROZYGOSITY, *INSPECTION & review, *GENES

Retinitis Pigmentosa Classification with Deep Learning and Integrated Gradients Analysis.

Authors: Ferreira, Hélder¹, helder2003ferreira123@gmail.com, Marta, Ana^2,3, analuisamarta2@gmail.com, Machado, Jorge^1,4, miguelj1992@outlook.com, Couto, Inês², inescouto12@gmail.com, Marques, João Pedro^5,6, marquesjoaopedro@gmail.com, Beirão, João Melo^2,3, brandaobeirao@gmail.com, Cunha, António^1,7, acunha@utad.pt

Source: Applied Sciences (2076-3417); Feb2025, Vol. 15 Issue 4, p2181, 13p