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Optic Atrophy (optic + atrophy)
Kinds of Optic Atrophy Selected AbstractsSpastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate GenesANNALS OF HUMAN GENETICS, Issue 3 2009Lúcia Inês Macedo-Souza Summary SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2. progressive spastic paraplegia with onset in infancy; and 3. progressive motor and sensory axonal neuropathy. Overall, we are now aware of 68 SPOAN patients (45 females and 23 males, with age ranging from 5 to 72 years), 44 of which are presented here for the first time. They were all born in the same geographic micro region. Those 68 patients belong to 43 sibships, 40 of which exhibit parental consanguinity. Sixty-one patients were fully clinically evaluated and 64 were included in the genetic investigation. All molecularly studied patients are homozygotes for D11S1889 at 11q13. This enabled us to reduce the critical region for the SPOAN gene from 4.8 to 2.3 Mb, with a maximum two point lod score of 33.2 (with marker D11S987) and of 27.0 (with marker D11S1889). Three genes located in this newly defined critical region were sequenced, but no pathogenic mutation was detected. The gene responsible for SPOAN remains elusive. [source] 4121: 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] Characterization of vigabatrin-associated optic atrophyACTA OPHTHALMOLOGICA, Issue 5 2003Lars Frisén Abstract. Aims:,To report the discovery of a previously unknown form of optic atrophy associated with use of the anti-epileptic drug vigabatrin. Methods:,We conducted a retrospective analysis of digitally enhanced ocular fundus photographs, kinetic visual field maps and treatment parameters for 25 patients, who were selected to represent a large spectrum of visual field defects. Results:,In all, 21 patients (84%) evidenced subtle, diffuse atrophy of the retinal nerve fibre layer, in a pattern accessible to scoring. Atrophy scores correlated with visual field remains and cumulative vigabatrin doses. A pathophysiological model is proposed that involves the lengths of intraocular (unmyelinated) retinal ganglion cell axons. Conclusion:,Optic atrophy attests to the irreversible nature of vigabatrin's visual toxicity. Ocular fundus imaging should prove useful for objectively monitoring vigabatrin-treated subjects for visual toxicity. [source] Cerebral arteriovenous malformation presenting as visual deterioration in a childDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 10 2000Lesley C Kaye MRC Ophth Associate Specialist in Ophthalmology A rare case of visual loss as the presenting feature of a central arteriovenous malformation involving the vein of Galen is reported. A 5-year-old girl with a history of deteriorating vision for the past 6 months was examined. Ocular examination showed a left hemianopia, left optic atrophy, and dilated vessels of the right optic disc. MRI revealed a massive deep-seated central arteriovenous malformation involving the vein of Galen. The mechanism of visual loss is likely to be a combination of ischaemic optic atrophy associated with a steal phenomenon and direct compression of the right optic radiation. [source] The relationship between diabetes mellitus and optic atrophy in childrenDIABETIC MEDICINE, Issue 12 2008A. Tatham No abstract is available for this article. [source] Bilateral optic atrophy following diabetic ketoacidosisDIABETIC MEDICINE, Issue 5 2000S. H. Song Summary Diabetic ketoacidosis (DKA) can result in neuropathic abnormalities of the somatic and the autonomous nervous systems. We report the case of a 50-year-old man with Type 1 diabetes of 20-year duration who after severe DKA lost vision in his right eye and only retain partial vision in his left. This case demonstrates that optic neural tissue is vunerable to haemodynamic and metabolic complications of DKA. [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] Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndromeJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 2 2005E Pakdemirli Summary Wolfram syndrome is a rare neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). A wide spectrum of abnormalities of the central nervous system, urinary tract and endocrine glands is also observed. We report cranial MRI findings in a 32-year-old female patient with Wolfram syndrome. In addition to the classical features, including absence of the normal high signal of the neurohypophysis, atrophy of visual pathways, the brainstem, cerebellum and cerebral cortex, we observed bilateral hyperintensity on proton density- and T2- weighted images related to the optic radiations in the periventricular white matter of the temporal and parieto-occipital lobes, which may reflect gliosis pathologically. [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] Pinealoblastoma with prominent retinoblastic differentiation: An unusual case in an adultNEUROPATHOLOGY, Issue 4 2010Nandita Ghosal We present an extremely rare case of pinealoblastoma with retinoblastic differentiation in a 32-year-old woman who presented with a history of intermittent headache of 2 years duration and diminution of vision for 2 months which eventually lead to total loss of vision. The fundus examination showed bilateral secondary optic atrophy. She did not have any previous history of retinoblastoma. The family history was non-contributory. Paraffin section of the tumor showed a primitive neuroectodermal tumor with numerous Flexner-Wintersteiner rosettes and the tumor cells were strongly positive for synaptophysin and negative for GFAP, S-100 protein and epithelial membrane antigen. This is the first case in the literature of a sporadic case of pinealoblastoma with prominent retinoblastic differentiation as evidenced histomorphologically by the presence of numerous Flexner-Wintersteiner rosettes in an adult female. [source] Neurological aspects of osteopetrosisNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 2 2003C. G. Steward The osteopetroses are caused by reduced activity of osteoclasts which results in defective remodelling of bone and increased bone density. They range from a devastating neurometabolic disease, through severe malignant infantile osteopetrosis (OP) to two more benign conditions principally affecting adults [autosomal dominant OP (ADO I and II)]. In many patients the disease is caused by defects in either the proton pump [the a3 subunit of vacuolar-type H(+)-ATPase, encoded by the gene variously termed ATP6i or TCIRG1] or the ClC-7 chloride channel (ClCN7 gene). These pumps are responsible for acidifying the bone surface beneath the osteoclast. Although generally thought of as bone diseases, the most serious consequences of the osteopetroses are seen in the nervous system. Cranial nerves, blood vessels and the spinal cord are compressed by either gradual occlusion or lack of growth of skull foramina. Most patients with OP have some degree of optic atrophy and many children with severe forms of autosomal recessive OP are rendered blind; optic decompression is frequently attempted to prevent the latter. Auditory, facial and trigeminal nerves may also be affected, and hydrocephalus can develop. Stenosis of both arterial supply (internal carotid and vertebral arteries) and venous drainage may occur. The least understood form of the disease is neuronopathic OP [OP and infantile neuroaxonal dystrophy, MIM (Mendelian inheritance in man) 600329] which causes rapid neurodegeneration and death within the first year. Although characterized by the finding of widespread axonal spheroids and accumulation of ceroid lipofuscin, the biochemical basis of this disease remains unknown. The neurological complications of this disease and other variants are presented in the context of the latest classification of the disease. [source] Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate GenesANNALS OF HUMAN GENETICS, Issue 3 2009Lúcia Inês Macedo-Souza Summary SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2. progressive spastic paraplegia with onset in infancy; and 3. progressive motor and sensory axonal neuropathy. Overall, we are now aware of 68 SPOAN patients (45 females and 23 males, with age ranging from 5 to 72 years), 44 of which are presented here for the first time. They were all born in the same geographic micro region. Those 68 patients belong to 43 sibships, 40 of which exhibit parental consanguinity. Sixty-one patients were fully clinically evaluated and 64 were included in the genetic investigation. All molecularly studied patients are homozygotes for D11S1889 at 11q13. This enabled us to reduce the critical region for the SPOAN gene from 4.8 to 2.3 Mb, with a maximum two point lod score of 33.2 (with marker D11S987) and of 27.0 (with marker D11S1889). Three genes located in this newly defined critical region were sequenced, but no pathogenic mutation was detected. The gene responsible for SPOAN remains elusive. [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] Functional and morphological changes in the eyes of Behçet's patients with uveitisACTA OPHTHALMOLOGICA, Issue 2 2010Masaru Takeuchi Abstract. Purpose:, Behçet's disease (BD) is a chronic, recurrent, multisystem disorder, and serious ocular involvement may lead to blindness. In some BD patients, latent tissue damage caused by recurrent ocular inflammation is not reflected by visual acuity or ophthalmoscopic findings. In this study, we evaluated the morphological and functional changes of ocular features related to duration of uveitis from onset in BD patients, and analysed their association with visual acuity. Methods:, Thirty-eight eyes of 20 patients with ocular BD were enrolled. Eyes with marked complications such as cataract, glaucoma, cystoid macular oedema, macular degeneration and optic atrophy were excluded from the study. During clinical remission of ocular inflammation, perimetric sensitivity and retinal thickness were measured by Micro Perimeter 1 (MP-1) and optical coherence tomography (OCT), respectively. The relationship between MP-1 and OCT findings, best-corrected visual acuity (BCVA) converted to logarithm of the minimum angle of resolution (logMAR) and duration from initial onset of uveitis were analysed statistically. Results:, logMAR correlated with perimetric sensitivity measured with MP-1 at the fovea, inner macula and outer macula, but not with retinal thickness based on OCT. The duration of uveitis correlated significantly with logMAR and with OCT-based retinal thickness at the fovea, inner macular and outer macula, but not with MP-1-derived retinal perimetric sensitivity. No correlation was found between OCT-based retinal thickness and the corresponding MP-1-derived retinal sensitivity at the fovea, inner macula or outer macula. Conclusion:, These results demonstrate that visual acuity, retinal perimetric sensitivity and retinal thickness decrease with an increase in the duration of uveitis in BD patients, but that retinal perimetric sensitivity is relatively preserved among these factors. [source] Hunter's syndrome and buphthalmos in a girl: an unusual ophthalmic associationACTA OPHTHALMOLOGICA, Issue 2009S SETHI Purpose To report an unusual ophthalmic presentation of a case of Hunter's syndrome/MPS II. Methods A sixteen-year-old girl presented to us with total loss of vision and forward protrusion OU since early childhood. Detailed examination, including slit lamp biomicroscopy, Intra ocular pressure (IOP) and fundoscopy was carried out. Thorough systemic evaluation including Computed Tomography (CT), metabolic and genetic analysis was undertaken in collaboration with internists. Results Characteristic facies, detection of glycosaminoglycan (GAG) variants in urine (chondroitin sulfate B and heparin sulfate) and iduronate-2-sulphatase activity in fibroblasts/leucocytes confirmed the diagnosis of MPS II. Child had severe photophobia but with no perception of light OU. OU buphthalmos with Haab's striae was noted, making a clear view of the fundus difficult. IOP OU was elevated, and 90D slit lamp biomicroscopy revealed a total glaucomatous optic atrophy in both eyes. On CT there was thickening and edema of preseptal and periorbital soft tissue with marked thinning of the optic nerves with prominent perineural CSF sleeves, indicative of marked optic atrophy. Conclusion Glaucoma is a known association of Hurler's, Scheie's and Maroteaux-Lamy syndromes but not Hunter's. In fact, there is only one report of suspected angle closure glaucoma in MPS II. Buphthalmos is not a likely presentation as the sclera in these patients is known to be thickened due to deposition of GAG. To the best of our knowledge, this is the first case report of buphthalmos in association with MPS II. The importance of a meticulous examination in this subset of patients cannot be overemphasised. An appropriate and timely intervention may result in a better quality of life for them. [source] Characterization of vigabatrin-associated optic atrophyACTA OPHTHALMOLOGICA, Issue 5 2003Lars Frisén Abstract. Aims:,To report the discovery of a previously unknown form of optic atrophy associated with use of the anti-epileptic drug vigabatrin. Methods:,We conducted a retrospective analysis of digitally enhanced ocular fundus photographs, kinetic visual field maps and treatment parameters for 25 patients, who were selected to represent a large spectrum of visual field defects. Results:,In all, 21 patients (84%) evidenced subtle, diffuse atrophy of the retinal nerve fibre layer, in a pattern accessible to scoring. Atrophy scores correlated with visual field remains and cumulative vigabatrin doses. A pathophysiological model is proposed that involves the lengths of intraocular (unmyelinated) retinal ganglion cell axons. Conclusion:,Optic atrophy attests to the irreversible nature of vigabatrin's visual toxicity. Ocular fundus imaging should prove useful for objectively monitoring vigabatrin-treated subjects for visual toxicity. [source] Outcome of vitrectomy in patients with Terson syndromeACTA OPHTHALMOLOGICA, Issue 2 2002Jan Ståle Ritland ABSTRACT. Purpose:, To report findings and evaluate the results of vitrectomy in 22 eyes with Terson syndrome. Methods:, We reviewed retrospectively the records of patients who underwent pars plana vitrectomy as a result of vitreous haemorrhage. Twelve cases concerned unilateral vitrectomy and five concerned bilateral vitrectomy. The time interval between intracranial haemorrhage and vitrectomy was 1,10 months (mean 5.9 months). Results:, During a mean follow-up of 23.3 months (range 1,69 months) visual acuity (VA) improved in 21 of 22 eyes. Preoperative VA was ,,0.1 in 20 of 22 eyes, while postoperative VA was ,,0.5 in 16 of 21 eyes. Poor visual outcomes were mainly caused by retinal detachments (seven eyes, in which three were caused by proliferative vitreoretinopathy), epiretinal membranes (seven eyes) and optic atrophy (one eye). Our study concurs with recent reports suggesting early vitrectomy in bilateral cases and in cases where ultrasonography shows epiretinal membrane or proliferative retinopathy formation. [source] Optic neuropathy secondary to radiotherapy for nasal melanomaCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 3 2004Helen Garrott MB BS Abstract Optic neuropathy is a rare but important complication of radiotherapy used in the treatment of cancers of the head and neck, usually resulting in rapidly progressive blindness in one or both eyes. The case is presented of a 77-year-old woman with bilateral optic neuropathy resulting in blindness, secondary to radiotherapy for a melanoma of the nasal cavity. The onset of optic neuropathy occurred 9 months post-radiotherapy, at a cumulative dose of 6000 rad. The left eye was first involved, with the right eye becoming involved within 2 weeks. Despite treatment with oral anticoagulation and high dose intravenous methylprednisolone, there was progressive deterioration resulting in bilateral optic atrophy, with final visual acuities of perception of light in the right eye and no perception of light in the left eye. This case demonstrates that oral anticoagulation was ineffective in the treatment of progressive radiation-induced optic neuropathy. [source] | |||||||||||||||||||||||||