IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy
Front Ophthalmol (Lausanne). 2025 Nov 5;5:1688232. doi: 10.3389/fopht.2025.1688232. eCollection 2025. ABSTRACT Autosomal dominant optic atrophy (ADOA) is among the most prevalent inherited optic neuropathies with hallmark symptoms of bilateral, painless, progressive, and typically permanent vision loss over time. ADOA can affect patients’ quality of life with debilitating visual symptoms, and there is a pressing need […]
Chromatic pupil campimetry as objective diagnostic tool for progressive optic neuropathies
Doc Ophthalmol. 2025 Oct 15. doi: 10.1007/s10633-025-10054-x. Online ahead of print. ABSTRACT PURPOSE: This study assessed the diagnostic potential of chromatic pupil campimetry (CPC) using relative maximal constriction amplitude (relMCA), pupillary light response (PLR) latency, and pupillary escape to differentiate optic neuropathies (ON) from healthy individuals and identify specific ON subtypes. METHODS: CPC testing used […]
Serum TSP-1 is a useful biomarker in severity assessment and the diagnosis of osteoarthritis
J Transl Med. 2025 Sep 2;23(1):987. doi: 10.1186/s12967-025-07022-z. ABSTRACT OBJECTIVE: Osteoarthritis (OA) is a degenerative joint disease characterized by articular cartilage degradation. Thrombospondin-1 (TSP-1) is a secreted trimeric glycoprotein with multiple functions. It can bind to various cell-surface receptors and is downregulated in OA chondrocytes. However, the utility of TSP-1 as a biomarker for OA […]
Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy
Cell Death Discov. 2025 May 30;11(1):259. doi: 10.1038/s41420-025-02442-8. ABSTRACT Autosomal dominant optic atrophy (ADOA) caused by mutations in the nuclear-encoded OPA1 gene result in the preferential loss of retinal ganglion cells (RGCs) and progressive optic nerve degeneration. The severity of ADOA can be highly variable. This study compared the pathophysiological consequences of the c.1034 G […]
The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants
Am J Ophthalmol Case Rep. 2025 Apr 29;38:102346. doi: 10.1016/j.ajoc.2025.102346. eCollection 2025 Jun. ABSTRACT PURPOSE: Leber Hereditary Optic Neuropathy (LHON) and Autosomal Dominant Optic Atrophy (ADOA) are hereditary optic neuropathies characterized by mitochondrial dysfunctions causing destruction to the retinal ganglion cells and their axons, painless bilateral vision loss and symmetrical temporal pallor of the optic […]
SARM1 loss protects retinal ganglion cells in a mouse model of Autosomal Dominant Optic Atrophy
J Clin Invest. 2025 May 9:e191315. doi: 10.1172/JCI191315. Online ahead of print. ABSTRACT Autosomal Dominant Optic Atrophy (ADOA), the most prevalent hereditary optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss. ADOA is primarily caused by mutations in the OPA1 gene, which encodes a conserved GTPase important for mitochondrial inner membrane dynamics. […]
OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation
J Transl Med. 2025 Apr 24;23(1):471. doi: 10.1186/s12967-025-06471-w. ABSTRACT BACKGROUND: Autosomal dominant optic atrophy (ADOA), a leading common inherited optic neuropathy, arises from progressive retinal ganglion cell degeneration, often linked to OPA1 mutations. OPA1, a mitochondrial GTPase, regulates mitochondrial fusion, crista structure, and apoptosis. While GTPase-related dysfunction is well-studied, the role of other OPA1 domains […]
The Balance of MFN2 and OPA1 in Mitochondrial Dynamics, Cellular Homeostasis, and Disease
Biomolecules. 2025 Mar 18;15(3):433. doi: 10.3390/biom15030433. ABSTRACT Mitochondrial dynamics, governed by fusion and fission, are crucial for maintaining cellular homeostasis, energy production, and stress adaptation. MFN2 and OPA1, key regulators of mitochondrial fusion, play essential roles beyond their structural functions, influencing bioenergetics, intracellular signaling, and quality control mechanisms such as mitophagy. Disruptions in these processes, […]
Correlation between quality of vision and clinical and structural parameters in patients with Autosomal Dominant Optic Atrophy
Eye (Lond). 2025 Mar 26. doi: 10.1038/s41433-025-03762-w. Online ahead of print. ABSTRACT BACKGROUND: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary condition caused by mutations in the OPA1 gene, leading to progressive degeneration of the optic nerve fibres and subsequent visual decline. Despite advances in understanding its genetic and clinical aspects, the impact of ADOA […]
Targeting OPA1 protein for therapeutic intervention in autosomal dominant optic atrophy: In silico drug discovery
J Mol Graph Model. 2025 Mar 17;138:109013. doi: 10.1016/j.jmgm.2025.109013. Online ahead of print. ABSTRACT Autosomal dominant hereditary optic atrophy (ADOA) is a prevalent hereditary condition characterized by the gradual and simultaneous deterioration of vision. Mutations in Optic atrophy 1 (OPA1) have been linked to ADOA, the prevailing form of inherited optic neuropathy. However, the current […]