Elucidating the mechanism of anti-apoptotic activity of α-crystallin and its therapeutic potential

Authors: Aparajita Chakraborty, Priyanka De, Sudipa Saha

Source: Journal of Stress Physiology & Biochemistry, Vol 21, Iss 1, Pp 182-189 (2025)

Subject Terms: α- crystallin, antiapoptotic mechanism, pro-apoptotic members, bax, bcl-2, caspase-3, caspase-9, retinal degenerations, ikkβ, nf- ĸb, therapeutic purposes, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.jspb.ru/issues/2025/N1/JSPB_2025_1_182-189.pdf; https://doaj.org/toc/1997-0838

Access URL: https://doaj.org/article/511b392189fc46c085e26fef45c6f7a2

Self-reported visual function and in-depth swept-source optical coherence tomography features of cystoid macular edema in retinitis pigmentosa

Authors: Celso Costa, Carlos Nogueira, Mário Soares, Silvia Simão, Pedro Melo, Rufino Silva, Joaquim Murta, João Pedro Marques

Source: International Journal of Retina and Vitreous, Vol 10, Iss 1, Pp 1-11 (2024)

Subject Terms: Inherited-retinal degenerations, Retinitis pigmentosa, Cystoid macular edema, Michigan retinal degeneration questionnaire, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/2056-9920

Access URL: https://doaj.org/article/06e264b3174d44b1a066f84a1ac9b228

Retinal Map of Peripheral Retinal Degenerations and Tears. Part 2. Non-rhegmatogenous Chorioretinal Degenerations

Authors: V. A. Shaimova, G. R. Islamova, N. A. Klyuchko, T. B. Shaimov, S. Kh. Kuchkildina, T. S. Dmukh, M. S. Ivin, A. A. Askaeva, T. G. Kravchenko, A. V. Fomin

Source: Oftalʹmologiâ, Vol 21, Iss 3, Pp 558-564 (2024)

Subject Terms: multimodal imaging of peripheral retina, retinal map, peripheral degeneration, chorioretinal retinal degenerations, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://www.ophthalmojournal.com/opht/article/view/2435; https://doaj.org/toc/1816-5095; https://doaj.org/toc/2500-0845

Access URL: https://doaj.org/article/63000fe2493149b69399c6bcd6ad1a96

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

Authors: João Pedro Marques, Nuno Ferreira, Natacha Moreno, Ana Marta, Sara Vaz-Pereira, Sérgio Estrela-Silva, José Costa, Ana Rocha Cardoso, Pedro Neves, Lilianne Duarte, Dália Meira, Joana Pires, Carlos Menezes, Filipa Rodrigues, Pedro Arede, André Coutinho, Diogo Cabral, Inês Coutinho, Miguel Ribeiro, Marta Macedo, Sérgio Brito, Filipe Isidro, Filipa Gomes Rodrigues, João Paulo Castro Sousa, Marco Marques, Raquel Martins, Eduardo Silva

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

Subject Terms: Inherited retinal degenerations, Genetic testing, Ophthalmic genetics, Rare eye diseases, Epidemiology, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/8fa619834869439da0bcbb2fd5623541

Retinal Map of Peripheral Retinal Degenerations and Tears. Part 1. Non­-Regmatogenous Intraretinal Degenerations of the Retina

Authors: V. A. Shaimova, G. R. Islamova, N. A. Klyuchko, T. B. Shaimov, S. Kh. Kuchkildina, T. S. Dmukh, M. S. Ivin, A. A. Askaeva, T. G. Kravchenko, A. V. Fomin

Source: Oftalʹmologiâ, Vol 21, Iss 2, Pp 311-318 (2024)

Subject Terms: multimodal studies, retinal map, peripheral degeneration, retinal tears, classification of peripheral retinal degenerations, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://www.ophthalmojournal.com/opht/article/view/2366; https://doaj.org/toc/1816-5095; https://doaj.org/toc/2500-0845

Access URL: https://doaj.org/article/3b5c357374304225b5292beb4f3d50b8

Bile Acid Metabolism Changes in Patients with a CRB1-Associated Inherited Retinal Degeneration

Authors: Moekotte, Lude ^{1, ∗}, de Boer, Joke H. ¹, Hiddingh, Sanne ¹, Gerritsen, Bram ¹, Lintelmann, Jutta ², Cecil, Alexander ², van den Born, L. Ingeborgh ³, Nguyen, Xuan-Thanh-An ⁴, Boon, Camiel J.F. ^{4, 5}, van Genderen, Maria M. ^{1, 6}, Kuiper, Jonas J.W. ¹

Source: In Ophthalmology Science December 2024

Editorial: Novel frontiers of retinal neurodegenerative diseases

Authors: Wensheng Li, Qinxiang Zheng, Bo Chen, Radouil Tzekov

Source: Frontiers in Medicine, Vol 11 (2024)

Subject Terms: retina, editorial, inherited retinal degenerations, gene therapy, review, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1470998/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/2b81ad0b811c47e4938ae2c8521373db

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023

Authors: Asad Munir, Salma Afsar, Atta Ur Rehman

Source: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-14 (2024)

Subject Terms: Inherited retinal degenerations, Consanguinity, Homozygous, Monogenic disorders, Pakistan, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2415

Access URL: https://doaj.org/article/483403039c834f3e9be3706777fa1962

Risk factors and prognosis of pediatric rhegmatogenous retinal detachment in Egypt: a university hospital based study

Authors: Mohamed Gaber Eissa, Mohamad Amr Salah Eddin Abdelhakim, Tamer Ahmed Macky, Hassan Aly Mortada

Source: International Journal of Ophthalmology, Vol 16, Iss 12, Pp 2034-2040 (2023)

Subject Terms: rhegmatogenous retinal detachment, pediatric, predisposing factors, proliferative vitreoretinopathy, peripheral retinal degenerations, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://ies.ijo.cn/en_publish/2023/12/20231216.pdf; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898

Access URL: https://doaj.org/article/312da3f6594841fd93248533cdfdada0

Impairing Gasdermin D-mediated pyroptosis is protective against retinal degeneration

Authors: Rakshanya Sekar, Yvette Wooff, Adrian V. Cioanca, Melan Kurera, Chinh Ngo, Si Ming Man, Riccardo Natoli

Source: Journal of Neuroinflammation, Vol 20, Iss 1, Pp 1-24 (2023)

Subject Terms: Gasdermin D, Age-related macular degeneration (AMD), Retinal degenerations, Neuroinflammation, Inflammasome, IL-1β, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1742-2094

Access URL: https://doaj.org/article/61edecadb83e4d179b792c98e67bf4ba

Development of Novel Patient-Reported Outcome (PRO) and Observer-Reported Outcome (ObsRO) Instruments in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA): ViSIO-PRO and ViSIO-ObsRO

Authors: Isabelle Audo, Francesco Patalano, Christel Naujoks, Claudio Spera, M. Dominik Fischer, Jane Green, Christine Kay, Todd Durham, Nicola Williamson, Helena Bradley, Melissa Barclay, Kieran Boparai, Judit Banhazi

Source: Ophthalmology and Therapy, Vol 12, Iss 4, Pp 2069-2085 (2023)

Subject Terms: Clinical outcome assessment, Health-related quality of life, Inherited retinal degenerations, Leber congenital amaurosis, Observer-reported outcome, Patient-reported outcome, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/2193-8245; https://doaj.org/toc/2193-6528

Access URL: https://doaj.org/article/b7961033a6cd4deeb8df0cd4f0d46538

A systematic comparison of optogenetic approaches to visual restoration

Authors: Michael J. Gilhooley, Moritz Lindner, Teele Palumaa, Steven Hughes, Stuart N. Peirson, Mark W. Hankins

Source: Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 111-123 (2022)

Subject Terms: inherited retinal degenerations, melanopsin, ReaChR, optogenetics, bipolar cells, Genetics, QH426-470, Cytology, QH573-671

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S232905012200033X; https://doaj.org/toc/2329-0501

Access URL: https://doaj.org/article/389b4ef8b91348ca90be5783efcfc4e6

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis

Authors: Alejandro J. Roman, Artur V. Cideciyan, Vivian Wu, Abraham A. Mascio, Arun K. Krishnan, Alexandra V. Garafalo, Samuel G. Jacobson

Source: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-9 (2022)

Subject Terms: Childhood blindness, Cone vision, Inherited retinal degenerations, Low vision, Outcome measures, Rod vision, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2415

Access URL: https://doaj.org/article/4f566c28bcc847919134b0de297a8186

COVID-19 Vaccines in Inherited Retinal Degenerations (IRD), Fears, Ideas and Real Interactions

Authors: Vingolo EM

Source: Clinical Ophthalmology, Vol Volume 16, Pp 1413-1417 (2022)

Subject Terms: covid-19, retinitis pigmentosa, vaccination, inherited retinal degenerations., Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://www.dovepress.com/covid-19-vaccines-in-inherited-retinal-degenerations-ird-fears-ideas-a-peer-reviewed-fulltext-article-OPTH; https://doaj.org/toc/1177-5483

Access URL: https://doaj.org/article/ae803e773cf64c8e9c6cb9c19c0e9f2a

Bietti crystalline dystrophy complicated by choroidal neovascularization treated with a single dose of aflibercept

Authors: Merve Ozbek, Seren Pehlivanoglu, Halil Ozgur Artunay

Source: Oman Journal of Ophthalmology, Vol 16, Iss 1, Pp 142-144 (2023)

Subject Terms: aflibercept, bietti crystalline dystrophy, choroidal neovascularization, optical coherence tomography, retinal degenerations, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.ojoonline.org/article.asp?issn=0974-620X;year=2023;volume=16;issue=1;spage=142;epage=144;aulast=Ozbek; https://doaj.org/toc/0974-620X

Access URL: https://doaj.org/article/7b3167a6595544fa9eedf5c5a9471be9

Gene-agnostic approaches to treating inherited retinal degenerations

Authors: Lindsey A. Chew, Alessandro Iannaccone

Source: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

Subject Terms: inherited retinal degenerations, retinal dystrophies, gene therapy, gene-agnostic, optogenetics, photoreceptor transplantation, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1177838/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/bc670b6662884fdeafe0ebebb0104f7e

The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review

Authors: Marcus P. Conway, Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Tomas Burke, Jacqueline Turner, Francois Thai Le, James J. O’Byrne, David J. Keegan

Source: Life, Vol 14, Iss 1, p 107 (2024)

Subject Terms: inherited retinal degenerations, ophthalmic genetics, syndromic retinopathy, multidisciplinary team, Science

File Description: electronic resource

Relation: https://www.mdpi.com/2075-1729/14/1/107; https://doaj.org/toc/2075-1729

Access URL: https://doaj.org/article/65a4dbddf55c48be9b4d8ee0e740b47b

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

Authors: Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

Subject Terms: Inherited retinal degenerations, Retinal dystrophy, Ocular genetics, Genetic diagnosis, Clinical diagnostic algorithm, Public and patient involvement, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/1e2946a4b4e241398534724d3c217c69

Editorial: The genetics of inherited retinal diseases in understudied ethnic groups: Novel associations, challenges, and perspectives

Authors: Said El Shamieh, Paolo Enrico Maltese

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: inherited retinal degenerations, understudied ethnic groups, mutations, gene-disease association, next generation sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.990782/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/634fd6b9867749499d398c7bde7c01ab

Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial

Authors: Artur V. Cideciyan, PhD, Samuel G. Jacobson, MD, PhD, Allen C. Ho, MD, Arun K. Krishnan, OD, PhD, Alejandro J. Roman, MS, Alexandra V. Garafalo, MS, Vivian Wu, MS, Malgorzata Swider, PhD, Alexander Sumaroka, PhD, Caroline Van Cauwenbergh, PhD, Stephen R. Russell, MD, Arlene V. Drack, MD, Bart P. Leroy, MD, PhD, Michael R. Schwartz, MS, Aniz Girach, MD

Source: Ophthalmology Science, Vol 2, Iss 2, Pp 100133- (2022)

Subject Terms: Antisense oligonucleotides, Cone photoreceptors, Fovea, Inherited retinal degenerations, Low vision, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666914522000227; https://doaj.org/toc/2666-9145

Access URL: https://doaj.org/article/0e7a0cea43364b59973a7b08801fbbad