Case of autosomal dominant optic atrophy with relatively good visual function
BMC Ophthalmol. 2025 Aug 1;25(1):443. doi: 10.1186/s12886-025-04276-5. ABSTRACT BACKGROUND: Dominant optic atrophy (DOA) is an inherited optic neuropathy caused by mutations of the OPA1 gene. Patients with DOA have a gradual loss of vision that is often detected in early life. While most cases stabilize at around a decimal best-corrected visual acuity (BCVA) of 0.1, […]
Pigmented Paravenous Chorioretinal Atrophy (PPCRA)
Adv Exp Med Biol. 2025;1467:119-121. doi: 10.1007/978-3-031-72230-1_22. ABSTRACT As the name suggests, in pigmented paravenous chorioretinal atrophy (PPCRA), patches of chorioretinal atrophy and pigment clumping are distributed along the veins (Figs. 22.1 and 22.2). In most cases, the retinal vessels, macula, and optic discs are normal, and the disease is usually nonprogressive. PMID:40736824 | DOI:10.1007/978-3-031-72230-1_22
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 […]