Research & Literature

Threshold levels of visual field and acuity loss related to significant decreases in the quality of life and emotional states of patients with retinitis pigmentosa.

Azoulay L, Chaumet-Riffaud P, Jaron S, et al.

Ophthalmic research 2015; (54(2)):78-84 doi:10.1159/000435886.

Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.

Beltran WA, Cideciyan AV, Iwabe S, et al.

Proceedings of the National Academy of Sciences of the United States of America 2015; (112(43)):E5844-53 doi:10.1073/pnas.1509914112.

Correlation of SD-OCT findings and visual function in patients with retinitis pigmentosa.

Battaglia Parodi M, La Spina C, Triolo G, et al.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016; (254(7)):1275-9 doi:10.1007/s00417-015-3185-x.

Bardet-Biedl syndrome: multiple fingers with multiple defects!

Madireddi J, Acharya V, Suryanarayana J, et al.

BMJ case reports 2015; (2015()).

Stem Cell Therapies for Reversing Vision Loss.

Higuchi A, Kumar SS, Benelli G, et al.

Trends in biotechnology 2017; (35(11)):1102-1117 doi:10.1016/j.tibtech.2017.06.016.

Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.

Megaw R, Abu-Arafeh H, Jungnickel M, et al.

Nature communications 2017; (8(1)):271 doi:10.1038/s41467-017-00111-8.

Gene panel sequencing in Brazilian patients with retinitis pigmentosa.

Costa KA, Salles MV, Whitebirch C, et al.

International journal of retina and vitreous 2017; (3()):33 doi:10.1186/s40942-017-0087-6.

Treatment of cystoid macular edema secondary to retinitis pigmentosa: a systematic review.

Bakthavatchalam M, Lai FHP, Rong SS, et al.

Survey of ophthalmology 2018; (63(3)):329-339 doi:10.1016/j.survophthal.2017.09.009.

Non-syndromic retinitis pigmentosa.

Verbakel SK, van Huet RAC, Boon CJF, et al.

Progress in retinal and eye research 2018; (66()):157-186 doi:10.1016/j.preteyeres.2018.03.005.

Argus II retinal prosthesis system: a review of patient selection criteria, surgical considerations, and post-operative outcomes.

Finn AP, Grewal DS, Vajzovic L

Clinical ophthalmology (Auckland, N.Z.) 2018; (12()):1089-1097 doi:10.2147/OPTH.S137525.

A 5-year retrospective record review of hospital-based low-vision rehabilitation in Thailand.

Chotikavanich S, Chanvarapha N, Loket S, et al.

Clinical optometry 2018; (10()):41-50 doi:10.2147/OPTO.S160103.

Ciliopathy: Usher Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2018; (1085()):167-170 doi:10.1007/978-3-319-95046-4_32.

Unilateral pigmentary retinopathy: a retrospective case series.

Errera MH, Robson AG, Wong T, et al.

Acta ophthalmologica 2019; (97(4)):e601-e617 doi:10.1111/aos.13981.

The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy.

Nanda A, McClements ME, Clouston P, et al.

American journal of ophthalmology 2019; (202()):23-29 doi:10.1016/j.ajo.2019.01.027.

Differentiation of Underlying Pathologies of Macular Edema Using Spectral Domain Optical Coherence Tomography (SD-OCT).

Dysli M, Rückert R, Munk MR

Ocular immunology and inflammation 2019; (27(3)):474-483 doi:10.1080/09273948.2019.1603313.

Enhanced Depth Navigation Through Augmented Reality Depth Mapping in Patients with Low Vision.

Angelopoulos AN, Ameri H, Mitra D, Humayun M

Scientific reports 2019; (9(1)):11230 doi:10.1038/s41598-019-47397-w.

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

Zhang Z, Dai H, Wang L, et al.

BMC ophthalmology 2019; (19(1)):240 doi:10.1186/s12886-019-1250-7.

Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.

Lin Y, Xu CL, Breazzano MP, et al.

Ophthalmic genetics 2020; (41(1)):26-30 doi:10.1080/13816810.2020.1723116.

[The Bardet-Biedl Syndrome - Diagnosis and Follow-up].

Rohrschneider K, Bolz HJ

Klinische Monatsblatter fur Augenheilkunde 2020; (237(3)):239-247 doi:10.1055/a-1118-3748.

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.

Sarkar H, Dubis AM, Downes S, Moosajee M

Frontiers in genetics 2020; (11()):335 doi:10.3389/fgene.2020.00335.

Laser treatment in retinitis pigmentosa-a review.

Gawęcki M

Lasers in medical science 2020; (35(8)):1663-1670 doi:10.1007/s10103-020-03036-9.

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.

Yi Z, Ouyang J, Sun W, et al.

EBioMedicine 2020; (56()):102792 doi:10.1016/j.ebiom.2020.102792.

Precision metabolome reprogramming for imprecision therapeutics in retinitis pigmentosa.

Caruso SM, Ryu J, Quinn PM, Tsang SH

The Journal of clinical investigation 2020; (130(8)):3971-3973.

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.

Pappalardo J, Heath Jeffery RC, Thompson JA, et al.

Ophthalmic genetics 2021; (42(1)):62-70 doi:10.1080/13816810.2020.1832533.

Identification of Novel EYS Mutations by Targeted Sequencing Analysis.

Tian W, Li X, Li Y, et al.

Genetic testing and molecular biomarkers 2020; (24(11)):745-753 doi:10.1089/gtmb.2020.0186.

Sensitization of ON-bipolar cells with ambient light activatable multi-characteristic opsin rescues vision in mice.

Batabyal S, Gajjeraman S, Pradhan S, et al.

Gene therapy 2021; (28(3-4)):162-176 doi:10.1038/s41434-020-00200-2.

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.

Solaguren-Beascoa M, Bujakowska KM, Méjécase C, et al.

Clinical genetics 2021; (99(2)):298-302 doi:10.1111/cge.13872.

A Review of Complicated Cataract in Retinitis Pigmentosa: Pathogenesis and Cataract Surgery.

Hong Y, Li H, Sun Y, Ji Y

Journal of ophthalmology 2020; (2020()):6699103 doi:10.1155/2020/6699103.

CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.

Talib M, Van Cauwenbergh C, De Zaeytijd J, et al.

The British journal of ophthalmology 2022; (106(5)):696-704 doi:10.1136/bjophthalmol-2020-316781.

CNGB1-related rod-cone dystrophy: A mutation review and update.

Nassisi M, Smirnov VM, Solis Hernandez C, et al.

Human mutation 2021; (42(6)):641-666 doi:10.1002/humu.24205.

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

Guardiola G, Ramos F, Izquierdo N

International medical case reports journal 2021; (14()):459-463 doi:10.2147/IMCRJ.S321961.

Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas.

Karska-Basta I, Romanowska-Dixon B, Pojda-Wilczek D, Mackiewicz N

Medicina (Kaunas, Lithuania) 2021; (57(9)) doi:10.3390/medicina57090892.

A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes.

Scott HA, Larson A, Rong SS, et al.

Cold Spring Harbor molecular case studies 2022; (8(2)) doi:10.1101/mcs.a006131.

Metabolic rescue of cone photoreceptors in retinitis pigmentosa.

Kaplan HJ, Wang W, Piri N, Dean DC

Taiwan journal of ophthalmology 2021; (11(4)):331-335 doi:10.4103/tjo.tjo_46_21.

Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.

Cui X, Kim HJ, Cheng CH, et al.

Human molecular genetics 2022; (31(14)):2438-2451 doi:10.1093/hmg/ddac032.

Retinitis Pigmentosa (RP): The Role of Oxidative Stress in the Degenerative Process Progression.

Vingolo EM, Casillo L, Contento L, et al.

Biomedicines 2022; (10(3)) doi:10.3390/biomedicines10030582.

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family.

Vaclavik V, Tiab L, Sun YJ, et al.

Investigative ophthalmology & visual science 2022; (63(3)):23 doi:10.1167/iovs.63.3.23.

Genetic dissection of non-syndromic retinitis pigmentosa.

Bhardwaj A, Yadav A, Yadav M, Tanwar M

Indian journal of ophthalmology 2022; (70(7)):2355-2385 doi:10.4103/ijo.IJO_46_22.

Mechanism of Cone Degeneration in Retinitis Pigmentosa.

Song DJ, Bao XL, Fan B, Li GY

Cellular and molecular neurobiology 2023; (43(3)):1037-1048 doi:10.1007/s10571-022-01243-2.

Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up.

Lisbjerg K, Bertelsen M, Lyng Forman J, et al.

Ophthalmic genetics 2023; (44(2)):139-146 doi:10.1080/13816810.2022.2123006.

Bardet-Biedl syndrome: The longer we miss, the worse is the outcome.

Edwar M, Ragab U, Kamel AA

Caspian journal of internal medicine 2022; (13(4)):805-809 doi:10.22088/cjim.13.4.805.

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

Georgiou M, Robson AG, Jovanovic K, et al.

Ophthalmology 2023; (130(4)):413-422 doi:10.1016/j.ophtha.2022.11.015.

Introduction and Discovery of Retinitis Pigmentosa.

Wang HH, Chen N, Wang NK

Methods in molecular biology (Clifton, N.J.) 2023; (2560()):1-14 doi:10.1007/978-1-0716-2651-1_1.

Prime Editing for the Installation and Correction of Mutations Causing Inherited Retinal Disease: A Brief Methodology.

Tsai YT, da Costa BL, Nolan ND, et al.

Methods in molecular biology (Clifton, N.J.) 2023; (2560()):313-331 doi:10.1007/978-1-0716-2651-1_29.

Cataract surgery in patients with retinitis pigmentosa: systematic review.

Khojasteh H, Riazi-Esfahani H, Mirghorbani M, et al.

Journal of cataract and refractive surgery 2023; (49(3)):312-320 doi:10.1097/j.jcrs.0000000000001101.

Reduced inspired oxygen decreases retinal superoxide radicals and promotes cone function and survival in a model of retinitis pigmentosa.

Kanan Y, Hackett SF, Hsueh HT, et al.

Free radical biology & medicine 2023; (198()):118-122 doi:10.1016/j.freeradbiomed.2023.01.021.

Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development.

Wu KY, Kulbay M, Toameh D, et al.

Pharmaceutics 2023; (15(2)) doi:10.3390/pharmaceutics15020685.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Han J, Joo K, Kim US, et al.

Korean journal of ophthalmology : KJO 2023; (37(2)):166-186 doi:10.3341/kjo.2023.0008.

Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.

Kong L, Chu G, Ma W, et al.

Journal of medical genetics 2023; (60(10)):939-950 doi:10.1136/jmg-2022-108888.

A Case of Laurence Moon Bardet Biedl Syndrome.

Indraneel KS, VRajalakshmi , Dayanandan Y, Reddy NM

The Journal of the Association of Physicians of India 2023; (71(1)):1.

RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy.

Awadh Hashem S, Georgiou M, Ali RR, Michaelides M

Cold Spring Harbor perspectives in medicine 2023; (13(11)) doi:10.1101/cshperspect.a041280.

Carbonic anhydrase inhibitors in the management of macular edema: A review of the literature.

Shahsuvaryan ML

Medical hypothesis, discovery & innovation ophthalmology journal 2022; (11(1)):34-41 doi:10.51329/mehdiophthal1443.

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.

Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, et al.

HGG advances 2023; (4(4)):100229 doi:10.1016/j.xhgg.2023.100229.

Restoration of Rod-Derived Metabolic and Redox Signaling to Prevent Blindness.

Clérin E, Aït-Ali N, Sahel JA, Léveillard T

Cold Spring Harbor perspectives in medicine 2024; (14(11)) doi:10.1101/cshperspect.a041284.

Protocol for the treatment of cystoid macular edema secondary to retinitis pigmentosa and other inherited retinal dystrophies.

Català-Mora J, Santamaría Álvarez JF, Kyriakou D, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2024; (99(2)):67-81 doi:10.1016/j.oftale.2023.11.001.

Retinitis Pigmentosa: Pathogenesis, Diagnostic Findings, and Treatment.

Kamde SP, Anjankar A

Cureus 2023; (15(10)):e48006 doi:10.7759/cureus.48006.

Insight into the role of non-coding RNA in the diagnosis and treatment of retinitis pigmentosa.

Chen JY, Liu WJ, Niu SR, et al.

Non-coding RNA research 2024; (9(1)):44-54 doi:10.1016/j.ncrna.2023.10.011.

Retinitis Pigmentosa: From Pathomolecular Mechanisms to Therapeutic Strategies.

Vingolo EM, Mascolo S, Miccichè F, Manco G

Medicina (Kaunas, Lithuania) 2024; (60(1)) doi:10.3390/medicina60010189.

Identifying causes of vision loss and assistive technology needs among patients attending rehabilitation clinic of a tertiary care center in North India.

Senjam SS, Beniwal A, Lomi N, et al.

Indian journal of ophthalmology 2024; (72(4)):520-525 doi:10.4103/IJO.IJO_194_23.

Masquerade syndrome: A review of uveitic imposters.

Dutta Majumder P, Khetan V, Biswas J

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) 2024; (13(2)):100054 doi:10.1016/j.apjo.2024.100054.

Gene Editing for CEP290-Associated Retinal Degeneration.

Pierce EA, Aleman TS, Jayasundera KT, et al.

The New England journal of medicine 2024; (390(21)):1972-1984 doi:10.1056/NEJMoa2309915.

Cataract surgery in retinitis pigmentosa.

Karti O, Saatci AO

Medical hypothesis, discovery & innovation ophthalmology journal 2024; (13(2)):96-103 doi:10.51329/mehdiophthal1500.

The incidence of visual impairment due to retinitis pigmentosa has declined in Finland over the last 40 years.

Mosallaei P, Purola P, Tolkkinen L, et al.

Acta ophthalmologica 2025; (103(1)):85-92 doi:10.1111/aos.16757.

Multi-Characteristic Opsin Therapy to Functionalize Retina, Attenuate Retinal Degeneration, and Restore Vision in Mouse Models of Retinitis Pigmentosa.

Batabyal S, Kim S, Carlson M, et al.

Translational vision science & technology 2024; (13(10)):25 doi:10.1167/tvst.13.10.25.

Syndromic retinitis pigmentosa.

Karuntu JS, Almushattat H, Nguyen XT, et al.

Progress in retinal and eye research 2025; (107()):101324 doi:10.1016/j.preteyeres.2024.101324.

[N-Acetylcysteine (NAC) for Retinitis pigmentosa].

Pfau K, Callizo J, Rossouw P, et al.

Klinische Monatsblatter fur Augenheilkunde 2025; (242(3)):199-204 doi:10.1055/a-2525-4419.

Bilateral Giant Choroidal Cavern in a Case of Rod-Cone Dystrophy: A Rare Presentation.

Shah R, Ajmani U, Nayak S, et al.

Ophthalmic surgery, lasers & imaging retina 2025; (56(4)):241-243 doi:10.3928/23258160-20241216-02.

Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.

Seela JR, Moon JY, Montezuma SR

Journal of vitreoretinal diseases 2025; 24741264251340108 doi:10.1177/24741264251340108.

Vision rehabilitation of patients with retinitis pigmentosa.

Shah M, Tariq Y

Clinical & experimental optometry 2026; (109(2)):215-220 doi:10.1080/08164622.2025.2522178.

Retinitis Pigmentosa: From Genetic Insights to Innovative Therapeutic Approaches-A Literature Review.

Murati Calderón RA, Emanuelli A, Izquierdo N

Medicina (Kaunas, Lithuania) 2025; (61(7)) doi:10.3390/medicina61071179.

Genetic Therapies for Retinitis Pigmentosa: Current Breakthroughs and Future Directions.

Pniakowska Z, Dzieża N, Kustosik N, et al.

Journal of clinical medicine 2025; (14(16)) doi:10.3390/jcm14165661.

Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology.

Lobo R, Al-Hinai A, Al Busaidi A

Case reports in ophthalmological medicine 2025; (2025()):5349202 doi:10.1155/crop/5349202.

Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.

Koyanagi Y, Murakami Y, Kominami T, et al.

NPJ genomic medicine 2025; (11(1)):3 doi:10.1038/s41525-025-00541-0.

Detection of cystoid macular edema in patients with retinitis pigmentosa based on deep learning.

Hosseini F, Asadi F, Ahmadieh H, et al.

International journal of retina and vitreous 2025; (11(1)):139 doi:10.1186/s40942-025-00762-6.

Retained cone-responses in homozygous start codon variant in KIZ-associated retinitis pigmentosa.

Kong MD, O'Connell M, Exinor A, et al.

Documenta ophthalmologica. Advances in ophthalmology 2026; doi:10.1007/s10633-025-10066-7.

Combined Expression of hRdCVF and hRdCVFL Through AAV-Mediated Delivery for the Treatment of Retinitis Pigmentosa.

Clérin E, Yang Y, Pagan D, et al.

Investigative ophthalmology & visual science 2026; (67(3)):2 doi:10.1167/iovs.67.3.2.