Papers

New peer-reviewed RP research from PubMed. "Lab / animal" work is years from patients; "Human trial" papers report results in people.

• ALMS1 stabilizes the proximal centriole to drive transition zone assembly and ciliogenesis.

  Research The Journal of cell biology, 2027 Jan 4. Phan TP, Derderian C, Herranz-Pérez V et al.

• The effects of blunt ocular trauma in patients with inherited retinal disease: a multicenter case series.

  Research Ophthalmic genetics, 2026 Nov 8. Farrell LC, Muste JC, Tekin D et al.

• Experimental-numerical characterization of the time-dependent behavior of the porcine retina.

  Lab / animal Biomechanics and modeling in mechanobiology, 2026 Nov 6. Bertolo D, Berti F, Pandolfi A et al.

• Comment on: Impact of Zonular Laxity on the Accuracy of Intraocular Lens Power Calculation Formulas in Cataract Patients With Retinitis Pigmentosa.

  Research American journal of ophthalmology, 2026 Nov 5. Demir S

• Identification of a novel homozygous variant in the MKKS gene in a consanguineous Afghan family with Bardet-Biedl syndrome living in Iran.

  Research Ophthalmic genetics, 2026 Nov 4. Kalhor H, Hooshmandi S, Ghofrani M

• Anterior Capsulorhexis Optic Capture for Zonular Insufficiency: Three-Year Outcomes With a Retinitis Pigmentosa Subanalysis.

  Research Journal of cataract and refractive surgery, 2026 Nov 4. Mitooka S, Masuda Y, Komatsu K et al.

• Coats-like vasculopathy in the setting of PRPH2-associated multifocal macular pattern dystrophy.

  Research Ophthalmic genetics, 2026 Nov 4. Miltich M, Jung EH, Vidaurri-Martinez J et al.

• ApoE is associated with retinal inflammation during the progression of retinitis pigmentosa.

  Research Experimental eye research, 2026 Nov 3. Gu B, Lu J, Jiang W et al.

• Association Between Quality of Life and Visual Function in Inherited Retinal Disease: A Cross-sectional Study in a Retinal Genetics Centre.

  Research Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists), 2026 Nov 2. Raji S, Taylor LJ, MacLaren RE

• Cell-cycle regulatory responses in retinal degeneration: From post-mitotic homeostasis to cell-state transitions and fate decisions.

  Review Experimental eye research, 2026 Nov 2. Du W, Ma R, Hong Y et al.

• AAV8-PDE6B with 3'UTR provides rescue of photoreceptor structure and function in the rd10 mouse model of retinitis pigmentosa.

  Lab / animal Gene therapy, 2026 Nov 2. Eamegdool SS, Loi TH, Sabri A et al.

• Static Perimetry-OCT Topographical Overlay Findings in the RUSH2A Study.

  Research Translational vision science & technology, 2026 Nov 2. Miller AK, Duncan JL, Maguire MG et al.

• RWC Update: Managing Inherited Retinal Diseases in 2026: Where Are We Now?; Acute Optic Nerve Avulsion With Secondary Central Retinal Artery Occlusion.

  Research Ophthalmic surgery, lasers & imaging retina, 2026 Nov. Sharma A, Wu L, Bloom S et al.

• Progress in the application of laser photocoagulation therapy in the treatment of pediatric retinal diseases.

  Review Lasers in medical science, 2026 Oct 30. Zhang Q, Chai X, Gong D et al.

• NMNAT1 early-onset retinal dystrophy (EORD) caused by a novel 5'UTR splice donor variant.

  Research Ophthalmic genetics, 2026 Oct 30. Morales PC, Estrada-Puente C, D'Cunha R et al.

• Essential Kinase C Zeta in Nonsyndromic Retinitis Pigmentosa.

  Research JAMA ophthalmology, 2026 Oct 29. Valensi J, Shalom S, Sharon D

• Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.

  Research JAMA ophthalmology, 2026 Oct 29. Cordeddu V, Sangermano R, Mulder SWM et al.

• Retinal phenotypes and longitudinal clinical courses in patients with NPHP1-associated Senior-Løken syndrome.

  Research American journal of ophthalmology, 2026 Oct 29. Kuniyoshi K, Domoto A, Hayashi T et al.

• Brr2p-mediated unwinding of U4/U6 is promoted by a mutually exclusive internal stem loop in U4 and involves destabilization of the 5' stem-loop of U4.

  Research RNA (New York, N.Y.), 2026 Oct 26. Nielsen KH, Johnson B, Das A et al.

• Does Route of Administration Affect the Outcome of Retinal Gene Therapy Clinical Trials?

  Research Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics, 2026 Oct 25. Marmorstein AD, Beltran WA, Scruggs BA

• Predominance and clustering of splice-site variants in Koreans with IMPG2-associated retinopathy: implications for haploinsufficiency and loss of function as disease mechanisms.

  Research Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2026 Oct 23. Song SH, Jeon S, Chung H et al.

• Rethinking nonsense suppression therapies in inherited retinal diseases.

  Review Trends in molecular medicine, 2026 Oct 23. Ren C, Hu C, Hu M et al.

• An open-source platform for measuring optomotor responses in mice.

  Lab / animal The journal of physiological sciences : JPS, 2026 Oct 23. Suematsu N, Ikeda T, Aoki T et al.

• Functional response, retinal structure and safety of subretinal gene augmentation in retinitis pigmentosa: A systematic review and meta-analysis.

  Review Journal of controlled release : official journal of the Controlled Release Society, 2026 Oct 22. Chen KY, Chan HC, Chan CM

• [Bardet-Biedl syndrome-diagnosis, care and treatment approaches].

  Review Die Ophthalmologie, 2026 Oct 21. Kühlewein L, Kellner U, Jägle H et al.

• Geographic disparities in the distribution of ISGEDR-affiliated ocular genetics physicians relative to retinitis pigmentosa burden.

  Research Ophthalmic genetics, 2026 Oct 21. Dogra N, Perkins J, Levin AV

• Comparison of raw-signal, feature-based and hybrid representations for machine-learning classification of retinal diseases from pattern electroretinography.

  Research Medical & biological engineering & computing, 2026 Oct 20. Aygün AB, Açıkgöz R, Coşkun M et al.

• Cuproptosis-associated retinal degeneration in a mouse model of retinitis pigmentosa and neuroprotection by copper chelation.

  Lab / animal Neural regeneration research, 2026 Oct 20. Li ZY, Li Y, Yang D et al.

• Mastering the eye: Clinical paradigm shifts from optical restoration to genomic correction.

  Review Progress in retinal and eye research, 2026 Oct 20. Zhang X, Li F, Huang D et al.

• What we can learn from nature to restore human vision.

  Review Frontiers in human neuroscience, 2026. Weener M, Khachatryan L, Baziyan B

• Artificial selection diversifies birdsong through polygenic changes across sensory and motor systems.

  Research bioRxiv : the preprint server for biology, 2026 Oct 19. Gazda MA, Tucker WC, Pereira P et al.

• Phenotypic variability of a dominant CRX mutation and molecular insights into pathogenesis.

  Research Ophthalmic genetics, 2026 Oct 18. Gomes IVY, Sun C, Zhang X et al.

• Hyperpolarization-activated cyclic nucleotide-gated channels preserve excitability in ON-bipolar cells after degeneration.

  Research The Journal of biological chemistry, 2026 Oct 16. Chu JW, Kang B, Kim K et al.

• Artificial Intelligence as a Catalyst for Cell-Based Therapies in Retinal Disease.

  Review Cells, 2026 Oct 16. Srivastava GK, Shukla P, Millas SC et al.

• Correction: Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study.

  Research Frontiers in medicine, 2026. Gu VY, Guo J, Zhang X et al.

• Optogenetic therapy shows early promise for treating retinitis pigmentosa.

  Research Nature medicine, 2026 Oct 15. O'Leary K

• Retinitis Pigmentosa: A Review of Its Pathogenesis and Emerging Molecular and Cellular Therapies.

  Review Vision (Basel, Switzerland), 2026 Oct 14. Tuli N, Baeshen M, Echbicheb M et al.

• Gene regulatory behaviors of mutant CRX proteins demonstrated with late-stage human retinal organoids.

  Lab / animal Human molecular genetics, 2026 Oct 13. Mullin NK, Voigt AP, Lamba DA et al.

• Mapping Genetic Modifiers Affecting Photoreceptor Degeneration and Axial Length in Eyes from Homozygous Mfrp(rd6) Mice.

  Lab / animal International journal of molecular sciences, 2026 Oct 13. Pinkney J, Weatherly S, Collin GB et al.

• Whole-Genome Sequencing in Diagnostics of Unsolved Cases of Inherited Retinal Diseases.

  Research International journal of molecular sciences, 2026 Oct 12. Ogorodova N, Stepanova A, Geletskaia P et al.

• Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

  Case report BMC ophthalmology, 2026 Oct 11. Awad A, Gheith B, Harthiyyeh AA et al.

• Pharmacological and Safety Evaluation of the Small Molecule MP-004 Following Topical Ocular Administration for the Treatment of Inherited Retinal Dystrophies.

  Research Drug design, development and therapy, 2026. Lara-López A, Rodríguez-Hidalgo M, Sarasola-Gastesi M et al.

• Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis.

  Research medRxiv : the preprint server for health sciences, 2026 Oct 9. Sun YJ, Velez G, Li A et al.

• Epitalon and Epithalamin: A Narrative Review of Mechanistic, Preclinical, and Clinical Evidence.

  Review International journal of molecular sciences, 2026 Oct 8. Jain A, Gallacher DM, Issa MA et al.

• Autosomal Recessive RDH12-Leber Congenital Amaurosis Retinal Organoids Suggest Phospholipid Pathway Dysregulation.

  Lab / animal International journal of molecular sciences, 2026 Oct 6. Méjécase C, Toualbi L, Zhou Y et al.

• A synthetic PGC1α co-activator reprograms microglial immunometabolism to preserve cone function in retinal degeneration.

  Research bioRxiv : the preprint server for biology, 2026 Oct 5. Winogrodzki T, Hernandez-Reyes J, Solanky R et al.

• Retinal Flattening Associated With Photoreceptor Degeneration Leads to the Formation of Staphyloma-Like Morphology in Retinitis Pigmentosa.

  Research Investigative ophthalmology & visual science, 2026 Oct 1. Yamabe Y, Fujibayashi S, Ichinohe H et al.

• Molecular Diagnostic Yield and Genotype-Phenotype Spectrum of Inherited Eye Diseases in a Tertiary Health Center in Türkiye.

  Research Beyoglu eye journal, 2026. Çevik MÖ

• The First 40 Years of Molecular Ophthalmology Part One: Inherited Retinal Disease: The 2026 Friedenwald Lecture.

  Research Investigative ophthalmology & visual science, 2026 Oct 1. Stone EM

• Erratum in: RPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa.

  Research Investigative ophthalmology & visual science, 2026 Oct 1.

• Plasma Membrane Calcium ATPases Drive Cytoplasmic Acidification and Photoreceptor Degeneration in Retinitis Pigmentosa.

  Research Investigative ophthalmology & visual science, 2026 Oct 1. Hernández-Pinto AM, Rodríguez-Muela N, Pimentel-Mayordomo N et al.

• Special Issue: Cell Signaling and Molecular Pathology of Retinal Diseases: 2nd Edition.

  Research International journal of molecular sciences, 2026 Sep 30. Tomita H

• Usher Syndrome Type 2A and Epileptic Encephalopathy with Spike-Wave Activation in Sleep: A Coincidental Dual Diagnosis? Case Report.

  Case report Molecular syndromology, 2026 Sep 30. Gazeteci Tekin H, Kuşgöz F, Cinleti T et al.

• The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles.

  Research Frontiers in genetics, 2026. Weener M, Hatsenko I, Zolnikova I et al.

• Bilateral Multifocal Serous Retinal Pigment Epithelial Detachments Coexisting With Generalized Rod-Cone Dysfunction Resembling Retinitis Pigmentosa.

  Case report Cureus, 2026 Sep. Fukagai H, Nariya Y, Sugimoto K et al.

• Topical Carbonic Anhydrase Inhibitors in Macular Edema: A Systematic Review.

  Review Cureus, 2026 Sep. Sadr A, Maleki A, Asadollahi M et al.

• Diffusion model with central annotation propagation for segmentation of ellipsoid zone maps on OCT scans of retinitis pigmentosa.

  Research Biomedical optics express, 2026 Oct 1. Choy KC, Jaffe GJ, Farsiu S

• Peripheral Vascular Alterations in USH2A-Retinitis Pigmentosa and Relationship with Macular Involvement: A Cross-Sectional Study.

  Research Ophthalmology science, 2026 Nov. Arrigo A, Forte G, Aragona E et al.

• Progression of Macular Tissue Loss in Choroideremia and Its Association with Baseline Fundus Autofluorescence Morphology.

  Research Ophthalmology science, 2026 Nov. Chujo S, Abbasgholizadeh R, Alhelaly M et al.

• Mesopic Microperimetry Captures Extensive Macular Atrophy with Pseudodrusen-Like Appearance Progression Beyond Visual Acuity: A Longitudinal Analysis.

  Research Ophthalmology science, 2026 Nov. Trinco A, Nardi C, D'Introno R et al.

• Structural features and disease-associated functions of ADGRV1: insights from signaling mechanisms.

  Review Cell communication and signaling : CCS, 2026 Aug 12. Liu Q, Tian J, Xin L et al.

• Olfactory ensheathing cell-derived extracellular vesicles protect the degenerated retinal pigment epithelium by delivering phagocytosis-related proteins.

  Research Extracellular vesicles and circulating nucleic acids, 2026. Chen S, Lin X, Cha Z et al.

• Inflammatory masquerade features in adult-onset CLN-associated retinal degeneration in a multiethnic Asian cohort.

  Research Journal of ophthalmic inflammation and infection, 2026 Jul 28. Sanjay S, Chee SP, Tang RWC et al.

• Single-cell transcriptome analysis highlights conserved transcriptional responses across multiple models of Retinitis Pigmentosa.

  Research Genes & diseases, 2027 Mar. Negueruela S, Di Guida M, Brandi P et al.

• Suspected Kearns-Sayre-associated Tachy-Brady Syndrome.

  Case report Journal of investigative medicine high impact case reports, 2026 Jan-Dec. Katwaroo A, Maharaj M, Ramcharan P et al.

• Regenerative therapies using pluripotent stem cell-derived retinal organoids.

  Review Taiwan journal of ophthalmology, 2026 Jul-Sep. Mandai M

• An update on human visual prosthesis: The Claes H. Dohlman lecture 2025.

  Review Taiwan journal of ophthalmology, 2026 Jul-Sep. Arevalo JF, Ramirez KA