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 […]