“Adrift From the World”: Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study
Value Health. 2025 Aug 6:S1098-3015(25)02490-8. doi: 10.1016/j.jval.2025.07.023. Online ahead of print. ABSTRACT OBJECTIVES: Little is understood about the lived experiences of individuals affected by inherited optic neuropathies (IONs) in the United Kingdom. The aim of this study was to understand how autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy, the 2 more commonly […]
Natural History and Biomarker Challenges in Dominant Optic Atrophy: Implications for Therapeutic Studies
Clin Exp Ophthalmol. 2025 Aug;53(6):597-599. doi: 10.1111/ceo.14583. NO ABSTRACT PMID:40765395 | DOI:10.1111/ceo.14583
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
Autosomal dominant retinitis pigmentosa: An extended family report of the Asp-190-Tyr variant
Arch Soc Esp Oftalmol (Engl Ed). 2025 Oct;100(10):585-591. doi: 10.1016/j.oftale.2025.07.009. Epub 2025 Jul 21. ABSTRACT INTRODUCTION AND OBJECTIVES: Retinitis pigmentosa (RP) represents a spectrum of rod-cone inherited disorders with characteristic symptoms, and functional changes. The Asp-190-Tyr pathogenic variant of the RHO gene impairs rodopsin transport through the endoplasmic reticulum, leading to accumulation within photoreceptors, inducing […]
CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy
Int J Mol Sci. 2025 Jul 2;26(13):6364. doi: 10.3390/ijms26136364. ABSTRACT Dominant Optic Atrophy (DOA) is the most common inherited optic neuropathy and presents as gradual visual loss caused by the loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variants in the OPA1 gene, which encodes a mitochondrial GTPase […]
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 […]