Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy
Orphanet J Rare Dis. 2026 Apr 18. doi: 10.1186/s13023-026-04348-9. Online ahead of print. NO ABSTRACT PMID:42001184 | DOI:10.1186/s13023-026-04348-9
Rhesus macaques with an OPA1 mutation demonstrate features of autosomal dominant optic atrophy
Proc Natl Acad Sci U S A. 2026 Apr 21;123(16):e2509165123. doi: 10.1073/pnas.2509165123. Epub 2026 Apr 15. ABSTRACT Autosomal dominant optic atrophy (ADOA) is an inherited optic neuropathy primarily caused by mutations in OPA1. We identified and defined a spontaneous nonhuman primate (NHP) model of ADOA using rhesus macaques heterozygous for a missense mutation (OPA1A8S). With […]
Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss
Ophthalmic Genet. 2026 Apr 9:1-4. doi: 10.1080/13816810.2026.2655887. Online ahead of print. ABSTRACT INTRODUCTION: Heterozygous UCHL1 variants have recently been associated with an autosomal dominant neurodegenerative disease characterized by spastic ataxia, optic atrophy and neuropathy. METHODS: We describe two individuals from a single family who presented with optic atrophy and progressive vision loss, without demonstrable spasticity, […]
Optic Atrophy 1: The Conductor of Cellular Harmony and Age-Related Pathologies
Aging Dis. 2025 Mar 19;17(3):1460-1483. doi: 10.14336/AD.2025.0017. ABSTRACT As the population aging, the prevalence of age-related diseases is also rising. Mitochondrial malfunction is one of the hallmarks of aging, and optic atrophy type 1 (OPA1), a protein found in the inner membrane (IM) of mitochondrial, is essential to this process. OPA1 regulates the fusion of […]
Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class
Invest Ophthalmol Vis Sci. 2026 Apr 1;67(4):13. doi: 10.1167/iovs.67.4.13. ABSTRACT PURPOSE: Inner retinal layer thinning in autosomal dominant optic atrophy (ADOA) can affect visual acuity (VA), but impact on perimetric parameters and disease-related changes with increasing age are undefined. METHODS: One hundred eight patients with ADOA harboring a disease-causing variant in OPA1 were analyzed retrospectively, […]
KIF1A-Related Neurodevelopmental Disorder
2026 Apr 2. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. ABSTRACT CLINICAL CHARACTERISTICS: KIF1A-related neurodevelopmental disorder (KIF1A-NDD) is both a developmental and degenerative condition with a broad phenotypic spectrum commonly including developmental delay, communication difficulties, optic nerve atrophy, seizures, […]
Frequency and Hearing Loss Phenotypes of OPA1 Variants in a Cohort of 18,475 Patients with Hearing Impairment
Genes (Basel). 2026 Mar 19;17(3):341. doi: 10.3390/genes17030341. ABSTRACT BACKGROUND/OBJECTIVES: The OPA1 gene encodes a dynamin-related GTPase essential for mitochondrial fusion. Variants in OPA1 are a major cause of autosomal dominant optic atrophy (DOA). A subset of DOA patients exhibits hearing loss, often manifesting as auditory neuropathy spectrum disorder (ANSD). In this study, we aimed to […]
Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants
Stem Cell Res. 2026 Mar 10;93:103950. doi: 10.1016/j.scr.2026.103950. Online ahead of print. ABSTRACT Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia, and autistic traits. We generated six novel human induced pluripotent stem cell (hiPSC) […]
Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant
Doc Ophthalmol. 2026 Feb;152(1):97-102. doi: 10.1007/s10633-025-10079-2. Epub 2026 Jan 13. ABSTRACT PURPOSE: We report the clinical history of two siblings, initially diagnosed with juvenile glaucoma (JG), who were subsequently found to harbor a novel pathogenic OPA1 splicing variant consistent with dominant optic atrophy (DOA). METHODS AND RESULTS: The male proband presented with elevated intraocular pressure […]
Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy
Sci Adv. 2026 Feb 20;12(8):eadx7815. doi: 10.1126/sciadv.adx7815. Epub 2026 Feb 18. ABSTRACT Autosomal dominant optic atrophy (ADOA) is a hereditary optic neuropathy caused by OPA1 variants, leading to retinal ganglion cell (RGC) degeneration and vision loss. The mechanisms behind RGC vulnerability to mitochondrial dysfunction remain unclear. We developed a patient-specific Opa1V291D/+ knock-in mouse model to […]