Category: ADOA

Generative Adversarial Network-Based Joint Mapping and Localization for Millimeter-Wave Communication Systems

Sensors (Basel). 2026 Jul 7;26(13):4319. doi: 10.3390/s26134319. ABSTRACT In this paper, we propose a novel generative adversarial network (GAN)-based joint localization and mapping (JLAM) method using angle difference of arrival (ADOA) measurements for millimeter-wave (mmWave) communication systems. The proposed method adopts a deep auto-encoder neural network as the discriminator of the GAN and models the […]

UCHL1-Related Dominant Optic Atrophy: Report of Two New Families

Neuroophthalmology. 2025 Aug 20;50(4):381-386. doi: 10.1080/01658107.2025.2548315. eCollection 2026. ABSTRACT Previously, biallelic variants in ubiquitin carboxy-terminal hydrolase L1 (UCHL1) have been associated with spastic paraplegia type 79, an autosomal recessive early-onset neurodegenerative disorder. Recently, heterozygous variants in UCHL1 have been associated with a neurological syndrome with various combinations of optic atrophy, spasticity, ataxia and neuropathy. We […]

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 […]