Category: Ophthalmology AND mitochondrial

Beyond Acute Cytotoxicity: A Repair-Exhaustion Framework for Chronic Sublethal Benzalkonium Chloride Toxicity in Repeated Ophthalmic Exposure

J Ocul Pharmacol Ther. 2026 Jul 15:10807683261466785. doi: 10.1177/10807683261466785. Online ahead of print. ABSTRACT Benzalkonium chloride (BAK), a common preservative in multi-dose ophthalmic products, is often studied under acute high-dose exposure, which highlights overt damage to corneal epithelial cells. These studies tend to exaggerate the maximum cytotoxic effects and do not accurately reflect the gradual, […]

When LHON Mimics Demyelination: Area Postrema Syndrome in Biallelic DNAJC30 Variants

J Clin Med. 2026 Jul 7;15(13):5289. doi: 10.3390/jcm15135289. ABSTRACT Introduction: Biallelic pathogenic variants in DNAJC30 cause an autosomal recessive form of Leber hereditary optic neuropathy (LHONAR1), traditionally considered a mitochondrially transmitted disorder. The phenotypic spectrum of diseases linked to DNAJC30 includes isolated optic neuropathy, Leigh syndrome spectrum (LSS), and atypical LHON-plus. Case description: Here, we […]

Mitochondrial transfer and mesenchymal stem cells in ophthalmology: current evidence and therapeutic implications

Exp Biol Med (Maywood). 2026 Jun 30;251:11128. doi: 10.3389/ebm.2026.11128. eCollection 2026. ABSTRACT Mitochondrial dysfunction, driven by genetic mutations or oxidative stress, is a central contributor to the onset and progression of ophthalmic diseases. In recent years, intercellular mitochondrial transfer (MT) has emerged as a novel mechanism of cellular communication and repair in ocular tissues. MT […]

Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method

medRxiv [Preprint]. 2026 Jul 2:2026.07.02.26357130. doi: 10.64898/2026.07.02.26357130. ABSTRACT BACKGROUND: Wolfram syndrome is a rare neurodegenerative disorder, most commonly caused by pathogenic variants in WFS1, while cases due to CISD2 are exceedingly rare. The estimated prevalence is 1 in 160,000 to 770,000 individuals worldwide. In these clinical guidelines, disorders caused by WFS1 are referred to as […]

Quercetin is associated with photoreceptor protection in retinal degeneration

Sci Rep. 2026 Jul 10. doi: 10.1038/s41598-026-61773-3. Online ahead of print. ABSTRACT Retinal degeneration (RD) is a group of retinopathies characterized by progressive photoreceptor death and chronic neuroinflammation. Quercetin (QUE) is a natural flavonol with potent anti-inflammatory and free-radical scavenging properties. However, its protective effects against RD remain poorly characterized. This study aims to investigate […]

Late-Onset Leber Hereditary Optic Neuropathy: A Report of a Case and Review of the Literature

Cureus. 2026 Jun 9;18(6):e110551. doi: 10.7759/cureus.110551. eCollection 2026 Jun. ABSTRACT Leber hereditary optic neuropathy (LHON) constitutes a mitochondrial disorder characterized by subacute, bilateral central vision impairment, secondary to mitochondrial DNA (mtDNA) mutations. These mutations compromise Complex I, subsequently precipitating the degeneration of retinal ganglion cells (RGCs). While traditionally manifesting in young males, contemporary literature has […]

Characterization of Rcbtb1 Knockout Mice and Evaluation of AAV2-RCBTB1 Gene Replacement Therapy

Transl Vis Sci Technol. 2026 Jul 1;15(7):12. doi: 10.1167/tvst.15.7.12. ABSTRACT PURPOSE: Biallelic pathogenic variants in the RCC1 and BTB domain-containing protein 1 (RCBTB1) gene cause an adult-onset retinal dystrophy. Here, we generated a knockout mouse model of RCBTB1 deficiency for the evaluation of RCBTB1 gene therapy. METHODS: Rcbtb1-knockout (KO) mice were generated with a homozygous […]

MAM-Localized MANF Counteracts Microinflammatory Stress to Attenuate Mitochondrial Dysfunction and Cataractogenesis in High Myopia

Adv Sci (Weinh). 2026 Jul 8:e76342. doi: 10.1002/advs.76342. Online ahead of print. ABSTRACT Chronic microinflammation drives tissue degeneration, particularly in age-related and metabolic diseases, yet how it disrupts inter-organelle communication that leads to cellular failure remains largely unexplored. Utilizing highly myopic cataract (HMC) as a paradigm, we uncover a non-canonical defense mechanism centered on mitochondria-associated […]

Exogenous mitochondrial transplantation attenuates oxidative stress-driven retinal degeneration in a sodium iodate – induced mouse model

Neurobiol Aging. 2026 Jul 6;168:1-13. doi: 10.1016/j.neurobiolaging.2026.07.002. Online ahead of print. ABSTRACT Age-related macular degeneration (AMD) is a degenerative retinal disease initiated by dysfunction of the retinal pigment epithelium (RPE), in which age-related mitochondrial impairment, oxidative stress, chronic inflammation, and complement activation collectively drive outer retinal dysfunction and RPE atrophy, ultimately leading to progressive central […]