Red Light Irradiation In Vivo Upregulates DJ-1 in the Retinal Ganglion Cell Layer and Protects against Axotomy-Related Dendritic Pruning
Int J Mol Sci. 2021 Aug 4;22(16):8380. doi: 10.3390/ijms22168380. ABSTRACT Retinal ganglion cells (RGCs) undergo dendritic pruning in a variety of neurodegenerative diseases, including glaucoma and autosomal dominant optic atrophy (ADOA). Axotomising RGCs by severing the optic nerve generates an acute model of RGC dendropathy, which can be utilized to assess the therapeutic potential of […]
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry
Ophthalmic Genet. 2022 Feb;43(1):42-47. doi: 10.1080/13816810.2021.1970197. Epub 2021 Aug 23. ABSTRACT BACKGROUND: Glaucomatous optic nerve damage is caused by selective death of retinal ganglion cells (RGCs). Another condition with underlying loss of RGCs is autosomal dominant optic atrophy (ADOA). Majority of ADOA patients have mutations in OPA1, gene responsible for mitochondrial fusion final steps. Clinical […]
Sustained intracellular calcium rise mediates neuronal mitophagy in models of autosomal dominant optic atrophy
Cell Death Differ. 2022 Jan;29(1):167-177. doi: 10.1038/s41418-021-00847-3. Epub 2021 Aug 13. ABSTRACT Mitochondrial dysfunction and mitophagy are often hallmarks of neurodegenerative diseases such as autosomal dominant optic atrophy (ADOA) caused by mutations in the key mitochondrial dynamics protein optic atrophy 1 (Opa1). However, the second messengers linking mitochondrial dysfunction to initiation of mitophagy remain poorly […]
In Vivo Imaging of the Schlemm’s Canal and the Response to Selective Laser Trabeculoplasty
Am J Ophthalmol. 2022 Feb;234:126-137. doi: 10.1016/j.ajo.2021.07.002. Epub 2021 Jul 18. ABSTRACT OBJECTIVE: To evaluate the presence of angle dysgenesis on ASOCT (anterior segment optical coherence tomography) (ADoA) as a predictive factor in determining outcomes of selective laser trabeculoplasty (SLT). DESIGN: A prospective clinical cohort study. SUBJECTS: Patients with juvenile-onset open-angle glaucoma (JOAG) without angle […]
Reproducibility of retinal vessel density among three different OCTA devices in ADOA patients
Graefes Arch Clin Exp Ophthalmol. 2023 Jan;261(1):277-279. doi: 10.1007/s00417-022-05788-2. Epub 2022 Aug 8. NO ABSTRACT PMID:35939119 | DOI:10.1007/s00417-022-05788-2
Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis
BMC Ophthalmol. 2022 Jul 26;22(1):322. doi: 10.1186/s12886-022-02546-0. ABSTRACT PURPOSE: To describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1-related autosomal dominant optic atrophy (ADOA) and define the phenotype-genotype correlations. METHODS: Detailed ophthalmic examinations were performed. Targeted next-generation sequencing (NGS) was conducted in the eleven probands using a custom […]
Prevalence of Macular Microcystoid Lacunae in Autosomal Dominant Optic Atrophy Assessed With Adaptive Optics
J Neuroophthalmol. 2022 Sep 1;42(3):328-333. doi: 10.1097/WNO.0000000000001592. Epub 2022 Mar 30. ABSTRACT BACKGROUND: To assess the prevalence of macular microcystoid lacunae in patients with autosomal dominant optic atrophy (ADOA) and its association with visual function and inner retinal morphology. METHODS: The study included 140 participants with ADOA, with a mean age of 44 (SD ±19, […]
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
Genes (Basel). 2022 Mar 8;13(3):478. doi: 10.3390/genes13030478. ABSTRACT Optic atrophy 1 (MIM #165500) is caused by pathogenic variants in the gene OPA1 (OPA1 MITOCHONDRIAL DYNAMIN-LIKE GTPase, MIM *605290) and is inherited in an autosomal dominant manner. We describe a 6-year-old male patient with severe early onset manifestation of optic atrophy, whose parents are subjectively asymptomatic. […]
Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults
Eye (Lond). 2022 Mar 10. doi: 10.1038/s41433-022-01990-y. Online ahead of print. ABSTRACT BACKGROUND/OBJECTIVES: To compare the clinical and optical coherence tomography (OCT) characteristics of autosomal dominant optic atrophy (ADOA) and normal tension glaucoma (NTG) in Chinese patients. SUBJECTS/METHODS: Twenty-four unrelated patients with ADOA and 21 unrelated patients with NTG, younger than 30 years, were enrolled […]
Vision-related quality of life and visual ability in patients with autosomal dominant optic atrophy
Acta Ophthalmol. 2022 Nov;100(7):797-804. doi: 10.1111/aos.15102. Epub 2022 Feb 10. ABSTRACT PURPOSE: The purpose of the study was to evaluate vision-related quality of life and visual ability in patients with OPA1 autosomal dominant optic atrophy (ADOA). METHODS: This cross-sectional, observational study included 145 participants with a mutation in the OPA1 gene associated with ADOA, 63 […]