Pupillometric evaluation of the melanopsin containing retinal ganglion cells in mitochondrial and non-mitochondrial optic neuropathies
Mitochondrion. 2017 Sep;36:124-129. doi: 10.1016/j.mito.2017.07.003. Epub 2017 Jul 14. ABSTRACT In recent years, chromatic pupillometry is used in humans to evaluate the activity of melanopsin expressing intrinsic photosensitive retinal ganglion cells (ipRGCs). Blue light is used to stimulate the ipRGCs and red light activates the rod/cone photoreceptors. The late re-dilation phase of pupillary light reflex […]
Thickness mapping of individual retinal layers and sectors by Spectralis SD-OCT in Autosomal Dominant Optic Atrophy
Acta Ophthalmol. 2018 May;96(3):251-256. doi: 10.1111/aos.13588. Epub 2017 Nov 1. ABSTRACT PURPOSE: To assess layer- and location-specific retinal thickness deficits in autosomal dominant optic atrophy (ADOA) using Spectralis SD-OCT. METHODS: This cross-sectional study included 41 ADOA patients with OPA1 exon 28 (2826delT) mutation [age, 8.6-83.5 years; best-corrected visual acuity (BCVA), 8-89 Early Treatment Diabetic Retinopathy […]
Mitochondrial disorders of the retinal ganglion cells and the optic nerve
Mitochondrion. 2018 Sep;42:1-10. doi: 10.1016/j.mito.2017.10.003. Epub 2017 Oct 18. ABSTRACT OBJECTIVES: To summarise and discuss recent findings and future perspectives concerning mitochondrial disorders (MIDs) affecting the retinal ganglion cells and the optic nerve (mitochondrial optic neuropathy. MON). METHOD: Literature review. RESULTS: MON in MIDs is more frequent than usually anticipated. MON may occur in specific […]
Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy
Mitochondrion. 2019 May;46:262-269. doi: 10.1016/j.mito.2018.07.006. Epub 2018 Aug 27. ABSTRACT Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central vision loss, and impairment of color vision. Additionally, a small percentage of patients experience hearing loss and ataxia, while recent studies suggest disruption of […]
Sensitive Analysis of Sialic Acid and Related Compound by Hydrophilic Interaction Liquid Chromatography Using Fluorescence Detection after Derivatization with DBD-PZ
Anal Sci. 2018;34(7):841-844. doi: 10.2116/analsci.18N001. ABSTRACT N-Acetylneuraminic acid (NANA) has been reported to react with hydrogen peroxide in vitro to produce 4-(acetylamino)-2,4-dideoxy-D-glycero-D-galacto-octonic acid (ADOA). We labeled NANA and ADOA with 4-(N,N-dimethylaminosulfonyl)-7-piperazino-2,1,3-benzoxadiazole (DBD-PZ) for simultaneous detection. The derivatized NANA and ADOA were separated using hydrophilic interaction liquid chromatography (HILIC) with fluorescence detection. The calibration curves of […]
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants
Ophthalmic Genet. 2018 Oct;39(5):569-576. doi: 10.1080/13816810.2018.1466337. Epub 2018 Jun 28. ABSTRACT BACKGROUND: Autosomal-dominant optic atrophy (ADOA) is one of the most common types of inherited optic atrophy. We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients Materials and Methods: Detailed clinical evaluations were performed and genomic DNA […]
Hereditary Optic Neuropathies
Klin Monbl Augenheilkd. 2018 Jun;235(6):747-763. doi: 10.1055/a-0583-6290. Epub 2018 Feb 28. ABSTRACT Hereditary optic nerve disorders are rare. For ophthalmologists, Leber’s hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular relevance. LHON and ADOA are diseases of the retinal ganglion cells and are caused by mitchochondrial dysfunction. LHON is based on […]
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families
J Neurol Sci. 2017 Nov 15;382:29-35. doi: 10.1016/j.jns.2017.09.018. Epub 2017 Sep 14. ABSTRACT Mutations in OPA1 are responsible of 32-89% cases of Autosomal Dominant Optic Atrophy (ADOA). OPA1 ADOA usually presents in childhood with bilateral, progressive visual loss due to retinal ganglion cells neurodegeneration, but environmental factors are supposed to influence onset and phenotype. Sixty […]
Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C
Metab Brain Dis. 2019 Aug;34(4):1023-1027. doi: 10.1007/s11011-019-00425-0. Epub 2019 Jun 1. ABSTRACT OPA1 variants most frequently manifest phenotypically with pure autosomal dominant optic atrophy (ADOA) or with ADOA plus. The most frequent abnormalities in ADOA plus in addition to the optic nerve affection include hypoacusis, migraine, myopathy, and neuropathy. Hypertelorism and atrophy of the acoustic […]
Metabolic stroke in a patient with bi-allelic OPA1 mutations
Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10. ABSTRACT OPA1 related disorders include: classic autosomal dominant optic atrophy syndrome (ADOA), ADOA plus syndrome and a bi-allelic OPA1 complex neurological disorder. We describe metabolic stroke in a patient with bi-allelic OPA1 mutations. A twelve-year old girl presented with a complex neurological disorder that […]