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Dominant Optic Atrophy (dominant + optic_atrophy)
Selected Abstracts4121: Combined OCT retinal nerve fibre layer analysis and VEP in neuro-ophthalmic diseaseACTA OPHTHALMOLOGICA, Issue 2010P GOOD Purpose Ocular Coherence Tomography (OCT) has become a valuable tool in assessing retinal nerve fibre layer thickness (RNFL) in Patients with optic nerve disease. This study is designed to compare RNFL thickness n with Visual Evoked Cortical Potentials (VECP)in patients with known optic nerve disease and comparing these to a group of patients with primary open angle glaucoma (POAG). Methods Twenty Patients (37 eyes) with clinically determined optic nerve disease underwent pattern reversal VECP and also OCT using a Spectralis OCT system. Assessment of global and segmental RNFL was made. Six Patients were diagnosed as Dominant Optic atrophy, 3 with Lebers Optic Neuropathy (LHON), 6 with Nutritional amblyopia, 3 with Anterior Ischaemic Optic Neuropathy (AION), and 2 with Demyelinating disease. These Patients were also compared to a group of 10 patients (20 eyes) with Primary Open Angle Glaucoma POAG. Results Pattern reversal VECP were abnormal in 32/37 eyes (86%): 26/32 (81%) of these being of reduced amplitude, and 20/32 (62%) being delayed. Amongst the patients with POAG only 4/20 eyes (20%) had abnormal VECP, and none were delayed. Thinning of the RNFL occurred in 36/37 eyes (97%) with optic nerve disease; 24 (65%) had global thinning, and the remainder segmental thinning only. All of the eyes with POAG had RNFL thinning but only 6/20 eyes (30%) had global thinning. Bipolar cell thinning of the central retina was noted in 6 eyes with optic nerve disease. Conclusion OCT is a valuable tool in the assessment of patients with optic nerve disease. Thinning of the RNFL was a more consistent finding than delay of the VECP in optic nerve disease, and a combination of VECP and OCT is helpful in the differential diagnosis of low tension glaucoma and optic nerve disease. [source] Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations,HUMAN MUTATION, Issue 7 2009Marc Ferré Abstract We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA. Molecular defects were identified in 440 patients (45% of screened patients). Among these, 295 patients (67%) had an OPA1 mutation, 131 patients (30%) had an mtDNA mutation, and 14 patients (3%), belonging to three unrelated families, had an OPA3 mutation. Interestingly, OPA1 mutations were found in 157 (40%) of the 392 apparently sporadic cases of optic atrophy. The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease. © 2009 Wiley-Liss, Inc. [source] The role of mitochondria in inherited neurodegenerative diseasesJOURNAL OF NEUROCHEMISTRY, Issue 6 2006Jennifer Q. Kwong Abstract In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated. However, the common pathogenic mechanisms of neuronal death are still largely unknown. Recently, mitochondrial dysfunction has emerged as a potential ,lowest common denominator' linking these disorders. In this review, we discuss the body of evidence supporting the role of mitochondria in the pathogenesis of hereditary neurodegenerative diseases. We summarize the principal features of genetic diseases caused by abnormalities of mitochondrial proteins encoded by the mitochondrial or the nuclear genomes. We then address genetic diseases where mutant proteins are localized in multiple cell compartments, including mitochondria and where mitochondrial defects are likely to be directly caused by the mutant proteins. Finally, we describe examples of neurodegenerative disorders where mitochondrial dysfunction may be ,secondary' and probably concomitant with degenerative events in other cell organelles, but may still play an important role in the neuronal decay. Understanding the contribution of mitochondrial dysfunction to neurodegeneration and its pathophysiological basis will significantly impact our ability to develop more effective therapies for neurodegenerative diseases. [source] Axonal loss occurs early in dominant optic atrophyACTA OPHTHALMOLOGICA, Issue 3 2010Dan Milea Abstract. Purpose:, This study set out to investigate retinal nerve fibre layer (RNFL) thickness and best corrected visual acuity (BCVA) in relation to age in healthy subjects and patients with OPA1 autosomal dominant optic atrophy (DOA). Methods:, We carried out a cross-sectional investigation of RNFL thickness and ganglion cell layer density in 30 healthy subjects and 10 patients with OPA1 DOA using optical coherence tomography (OCT). We then performed a regression analysis of RNFL thickness and BCVA versus age. Results:, Both healthy subjects and DOA patients demonstrated a gradual reduction in RNFL thickness with age; the relationship was best described statistically by a model that assumed a constant offset between the two groups. Best corrected VA decreased significantly with age in DOA patients, in whom BCVA was correlated with peripapillary RNFL thickness in the inferior and superior peripapillary quadrants and with total macular thickness at eccentricities of 500,3000 ,m. The observations were best described by a constant offset of 41.9 ,m separating the two groups and an annual decrease in RNFL thickness of 0.48 ,m (p < 0.0001). In patients with DOA, increasing age was associated with decreasing BCVA (p = 0.046). Conclusions:, This cross-sectional study found evidence of comparable age-related decreases in RNFL thickness in healthy subjects and in DOA patients, where the deficit in DOA patients is best described using a model that assumes the deficit between the groups does not vary with age. The gradual reduction of BCVA with age may be a consequence of a relative deficit in RNFL thickness that is established before the second decade of life. [source] | ||||||||||