Pharmacologic Inhibition of YAP/TEAD and Development of New Chorioretinal Atrophy
JAMA Ophthalmol. 2025 Dec 4:e254213. doi: 10.1001/jamaophthalmol.2025.4213. Online ahead of print. ABSTRACT IMPORTANCE: As new chemotherapy agents emerge, ophthalmologists may play a role in identifying vision-threatening adverse effects. Inherited retinal degenerations can offer insight into the changes that may result from pharmacologic inhibition of the signaling pathways involved in these conditions. OBJECTIVE: To present a […]
The Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease
J Pers Med. 2025 Oct 16;15(10):495. doi: 10.3390/jpm15100495. ABSTRACT The gene SPG7 codes for the protein paraplegin, a subunit of the m-AAA protease in the inner mitochondrial membrane involved in protein quality control. SPG7 was initially identified as causing autosomal recessive hereditary spastic paraplegia (HSP), with a pure (insidiously progressive bilateral leg weakness and spasticity) […]
Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study
J Neuroophthalmol. 2025 Dec 19. doi: 10.1097/WNO.0000000000002428. Online ahead of print. ABSTRACT BACKGROUND: Wolfram syndrome type 1 (WS1), or “DIDMOAD” (diabetes insipidus, diabetes mellitus, optic atrophy (OA), and deafness, OMIM #222300), is a rare neurodegenerative disorder resulting from homozygous, compound heterozygous autosomal recessive (AR), or rarely autosomal dominant mutations in the WFS1 gene. Isolated OA […]
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy
Brain Commun. 2025 Nov 17;7(6):fcaf446. doi: 10.1093/braincomms/fcaf446. eCollection 2025. ABSTRACT Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (ADOA) are the two most prevailing primary mitochondrial optic neuropathies. Both diseases preferentially affect the smallest retinal ganglion cells (GCs) of the papillomacular bundle, causing central visual loss in young patients. Although ADOA and LHON show […]
Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant: A Case Report
Cureus. 2025 Oct 28;17(10):e95622. doi: 10.7759/cureus.95622. eCollection 2025 Oct. ABSTRACT We report a case of an 18-year-old Hispanic male patient with clinical features consistent with autosomal dominant optic atrophy (ADOA), including bilateral optic disc pallor, childhood color deficits, and visual field loss. The patient reported one year of progressive blurry vision; best-corrected visual acuity was […]
Advanced therapies for inherited optic neuropathies
Eye (Lond). 2025 Nov 29. doi: 10.1038/s41433-025-04109-1. Online ahead of print. ABSTRACT Inherited optic neuropathies (IONs), such as Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), typically lead to irreversible severe vision loss due to mitochondrial dysfunction causing retinal ganglion cell degeneration. Although current treatment options are limited, substantial progress has been […]
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 […]