Pediatric hereditary optic neuropathies in the United Arab Emirates
Ophthalmic Genet. 2026 Jun 16:1-6. doi: 10.1080/13816810.2026.2674280. Online ahead of print. ABSTRACT PURPOSE: To characterize outpatient pediatric hereditary optic neuropathies in the United Arab Emirates. METHODS: Retrospective case series (2016-2023, inclusive). RESULTS: Thirteen probands were identified (nine males). Thirty-eight percent (5/13) had extraocular symptoms at the time of presentation (e.g. hearing loss or developmental delay). […]
A nationwide overview of the clinical and genetic landscape of inherited eye disorders in Denmark
Ophthalmic Genet. 2026 Jun 10:1-8. doi: 10.1080/13816810.2026.2685298. Online ahead of print. ABSTRACT PURPOSE: To provide the first comprehensive, overview of the Danish Family Archive for Genetic Eye Diseases, a national umbrella registry on inherited eye disorders initiated in 1985. METHODS: A cross-sectional extraction of entries collected over 40 years was performed on 1 May 2025. […]
Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant
Stem Cell Res. 2026 Jun 1;94:104022. doi: 10.1016/j.scr.2026.104022. Online ahead of print. ABSTRACT Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment. The disease is caused by pathogenic variants in the Optic Atrophy 1 (OPA1) gene, […]
Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy
JAMA Ophthalmol. 2026 May 1;144(5):452-462. doi: 10.1001/jamaophthalmol.2026.0634. ABSTRACT IMPORTANCE: Aconitase 2 (ACO2) gene variants are one of the most frequent causes of dominant optic atrophy (DOA). However, the associated phenotypes and genotypes still lack proper characterization. OBJECTIVE: To characterize the clinical and genetic spectrum of ACO2-related DOA and evaluate genotype-phenotype correlations. DESIGN, SETTING, AND PARTICIPANTS: […]
ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes
Neurol Sci. 2026 May 19;47(6):499. doi: 10.1007/s10072-026-09101-5. ABSTRACT INTRODUCTION: ATP1A3-related neurological disorders show a broad spectrum of manifestations, usually with autosomal dominant transmission. Classical phenotypes include alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), and syndrome characterized by cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS). Additional rarer forms include childhood-onset-schizophrenia […]
Targeting the OPA1 pathway in autosomal dominant optic atrophy (ADOA): 25 years from gene discovery to therapeutic strategy
Expert Opin Ther Targets. 2026 May 8. doi: 10.1080/14728222.2026.2671678. Online ahead of print. ABSTRACT INTRODUCTION: Autosomal Dominant Optic Atrophy (ADOA) is a rare hereditary optic neuropathy primarily caused by OPA1 mutations. Retinal ganglion cell (RGC) loss results in variable visual impairments, occasionally accompanied by extra-ocular manifestations. ADOA also involves a developmental component consistent with OPA1’s […]
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
Clin Genet. 2026 May 1. doi: 10.1111/cge.70174. Online ahead of print. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous group of disorders caused by pathogenic variants in mitochondrial and nuclear genes. Despite increasing diagnostic yields, many patients remain without a molecular diagnosis. We report a novel candidate heterozygous variant in the PHB1 (Prohibitin 1) gene […]
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, […]