Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
BMC Med Genomics. 2024 Apr 19;17(1):94. doi: 10.1186/s12920-024-01850-6. ABSTRACT BACKGROUND: Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified. CASE PRESENTATION: A […]
Short Wavelength Automated Perimetry, Standard Automated Perimetry, and Optical Coherence Tomography in Dominant Optic Atrophy
J Clin Med. 2024 Mar 28;13(7):1971. doi: 10.3390/jcm13071971. ABSTRACT Background: Blue-yellow axis dyschromatopsia is well-known in Autosomal Dominant Optic Atrophy (ADOA) patients, but there were no data on the correlation between retinal structure and short-wavelength automated perimetry (SWAP) values in this pathology. Methods: In this cross-sectional case-control study, we assessed the correlation between best corrected […]
Chinese expert consensus on the clinical diagnosis and treatment of autosomal dominant optic atrophy (2024)
Zhonghua Yan Ke Za Zhi. 2024 Mar 11;60(3):226-233. doi: 10.3760/cma.j.cn112142-20231225-00308. ABSTRACT Autosomal dominant optic atrophy (ADOA) primarily affects retinal ganglion cells and their axons, resulting in varying degrees of central vision loss from childhood. Due to the rarity of ADOA in clinical practice, Chinese ophthalmologists currently lack sufficient understanding of the disease and experience non-standardized […]
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts
Hum Mol Genet. 2024 Jan 27:ddae008. doi: 10.1093/hmg/ddae008. Online ahead of print. ABSTRACT In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well understood. However, there is still limited knowledge about the specific cellular outcomes and factors involved for each gene and mutation, […]
Predicting lost to follow-up status using an adolescent HIV psychosocial attrition risk assessment tool: Results from a mixed methods prospective cohort study in Uganda
J Acquir Immune Defic Syndr. 2024 Jan 2. doi: 10.1097/QAI.0000000000003381. Online ahead of print. ABSTRACT BACKGROUND: Low retention in care for adolescents living with HIV (ALHIV) has been a key driver of sub-optimal viral load suppression rates in Uganda. The objective of the study was to develop a psychosocial risk assessment tool and evaluate its […]
In vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence
Indian J Ophthalmol. 2023 Dec 26. doi: 10.4103/IJO.IJO_1456_23. Online ahead of print. ABSTRACT PURPOSE: To predict the presence of angle dysgenesis on anterior-segment optical coherence tomography (ADoA) by using deep learning (DL) and to correlate ADoA with mutations in known glaucoma genes. PARTICIPANTS: In total, 800 high-definition anterior-segment optical coherence tomography (AS-OCT) images were included, […]
Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function
Stem Cell Reports. 2023 Nov 27:S2213-6711(23)00453-8. doi: 10.1016/j.stemcr.2023.11.004. Online ahead of print. ABSTRACT Autosomal dominant optic atrophy (ADOA), mostly caused by heterozygous OPA1 mutations and characterized by retinal ganglion cell (RGC) loss and optic nerve degeneration, is one of the most common types of inherited optic neuropathies. Previous work using a two-dimensional (2D) differentiation model […]
Visual Function and Inner Retinal Structure in Relation to Birth Factors in Autosomal Dominant Optic Atrophy
Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):32. doi: 10.1167/iovs.64.10.32. ABSTRACT PURPOSE: The extreme variation in expressivity of autosomal dominant optic atrophy (ADOA) is unexplained. It is present from early childhood, why there is reason to search for pre- and perinatal risk factors for poor vision in ADOA. The process of ganglion cell pruning in the […]
New avenues for therapy in mitochondrial optic neuropathies
Ther Adv Rare Dis. 2021 Jul 19;2:26330040211029037. doi: 10.1177/26330040211029037. eCollection 2021 Jan-Dec. ABSTRACT Mitochondrial optic neuropathies are a group of optic nerve atrophies exemplified by the two commonest conditions in this group, autosomal dominant optic atrophy (ADOA) and Leber’s hereditary optic neuropathy (LHON). Their clinical features comprise reduced visual acuity, colour vision deficits, centro-caecal scotomas […]
In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina
Cells. 2023 Mar 21;12(6):955. doi: 10.3390/cells12060955. ABSTRACT Efficacy and safety considerations constitute essential steps during development of in vivo gene therapies. Herein, we evaluated efficacy and safety of splice factor-based treatments to correct mutation-induced splice defects in an Opa1 mutant mouse line. We applied adeno-associated viruses to the retina. The viruses transduced retinal cells with […]