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 […]
Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant
Doc Ophthalmol. 2025 Dec;151(3):255-261. doi: 10.1007/s10633-025-10039-w. Epub 2025 Jul 9. ABSTRACT PURPOSE: To report a case of hereditary spherocytosis (HS) carrying a pathogenic variant in the SPTB gene, presenting with angioid streaks (ASs) and central retinal dysfunction. METHODS: A 63-year-old female patient diagnosed with HS was evaluated using multimodal imaging, full-field and multifocal electroretinograms (ffERGs […]
A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy
Neurol Sci. 2025 Dec 17;47(1):11. doi: 10.1007/s10072-025-08657-y. ABSTRACT BACKGROUND: UCHL1 encodes the neuronal protein UCH-L1, which plays a critical role in protein turnover Day (Prog Neurobiol 90(3):327-362, 2010). Variants in UCHL1 have been implicated in neurodegenerative disorders and hereditary spastic paraplegia (HSP) Mi (Ageing Res Rev 6:101856, 2023); Choi et al. (J Biol Chem 279(13):13256-64, […]
A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome
Ophthalmic Genet. 2025 Dec;46(6):671-674. doi: 10.1080/13816810.2025.2522365. Epub 2025 Jun 26. ABSTRACT BACKGROUND: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder that typically presents in early childhood. It is characterized by intellectual disability, developmental delay, and visual impairment, with optic atrophy being the most prominent ophthalmologic feature. The nuclear receptor subfamily 2, […]
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 […]