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Respuesta a la idebenona asociada a multivitaminoterapia en neuropatía óptica hereditaria de Leber
Barnils,N.; Mesa,E.; Mu？oz,S.; Ferrer-Artola,A.; Arruga,J.;
Archivos de la Sociedad Espa？ola de Oftalmología , 2007, DOI: 10.4321/S0365-66912007000600012
Abstract: objective: to ascertain the efficacy of idebenone and multivitamin treatment in leber？s hereditary optic neuropathy (lhon). method: two patients diagnosed of unilateral lhon were treated with megadoses of idebenone, vitamin c and riboflavin for one year. they were examined clinically before, during and after treatment. results: no improvement of visual function was observed. despite the idebenone treatment, in both cases the second eye became involved. conclusions: despite previous reports of visual recovery with idebenone in patients with lhon, our experience shows that an effective treatment for leber？s disease remains to be found.
Leber′s hereditary optic neuropathy: The mitochondrial connection revisited
Abu-Amero Khaled
Middle East African Journal of Ophthalmology , 2011,
Abstract: Our current understanding of Leber′s hereditary optic neuropathy (LHON)-mitochondrial connection falls short of comprehensive. Twenty years of intensive investigation have yielded a wealth of information about mitochondria, the mitochondrial genome, the metabolism of the optic nerve and other structures, and the phenotypic variability of classic LHON. However, we still cannot completely explain how primary LHON mutations injure the optic nerve or why the optic nerve is particularly at risk. We cannot explain the incomplete penetrance or the male predominance of LHON, the typical onset in young adult life without warning, or the synchronicity of visual loss. Moreover, primary LHON mutations clearly are not present in every family with the LHON phenotype (including multigenerational maternal inheritance), and they are present in only a minority of individuals who have the LHON optic neuropathy phenotype without a family history. All lines of evidence point to abnormalities of the mitochondria as the direct or indirect cause of LHON. Therefore, the mitochondria-LHON connection needs to be revisited and examined closely. This review will attempt to do that and provide an update on various aspects of LHON.
Leber′s hereditary optic neuropathy with molecular characterization in two Indian families
Verma I,Bijarnia Sunita,Saxena Renu,Kohli Sudha
Indian Journal of Ophthalmology , 2005,
Abstract: PURPOSE: Leber′s hereditary optic neuropathy (LHON) presents in early adulthood with painless progressive blindness of one or both eyes. Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India. MATERIAL AND METHODS: Clinical, ophthalmologic and molecular studies were carried out in two patients from different families and available first degree relatives. The subjects were tested for the three common mutations seen in LHON by molecular techniques of polymerase chain reaction using mutation specific primers. RESULTS: The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each. CONCLUSION: Diagnosis of LHON should be considered in familial cases and in young adults with optic atrophy. Confirmation of diagnosis should be sought by molecular gene analysis. Genetic counselling should be offered to all ′at risk′ relatives of a patient harbouring the mutation.
Bilateral progressive visual loss in an epileptic, mentally retarded boy
Guerriero Silvana,Vetrugno Michele,Ciracì Lorenza,Artuso Lucia
Middle East African Journal of Ophthalmology , 2011,
Abstract: Leber′s hereditary optic neuropathy (LHON) is a maternally inherited, monosymptomatic disorder, characterized by severe central vision loss and optic atrophy that most frequently affects young men. The classic LHON phenotype is associated to three mitochondrial DNA mutations, mostly homoplasmic, in the Mt-ND4, Mt-ND6, and Mt-ND1 genes, encoding for complex I subunits of the mitochondrial respiratory chain. Rare cases have been described in the literature in association with variable central nervous system involvement in a syndromic form called LHON ′plus.′ In the present study, we report the case of a 16-year-old boy with the 3460/ND1 mutation who presented with epilepsy, migraine, and mental retardation as non-ophthalmic features. We also investigated his relatives who all had the 3460/ND1 mutation.
Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy
Adriana Prundean,Caroline Tilikete,Christophe Orssaud,Christophe Verny,Clarisse Scherer,Dan Miléa,Dominique Bonneau,Guy Lenaers,Marie-Bénédicte Rougier,Pascal Reynier,Patrizia Amati-Bonneau,Stéphanie Leruez,Vincent Procaccio,Xavier Zanlonghi
- , 2018, DOI: 10.1186/s13023-018-0773-y
Abstract: Clinical data of five LHON patients at baseline and exit examinations during the cyclosporine tria
Sibling Ethambutol Optic Chiasmopathy
Clare L. Fraser,Domit Azar,Michael Rossiter-Thornton,Viran Jayanetti
- , 2018, DOI: 10.1080/01658107.2017.1322616
Abstract:
Neuropatía óptica hereditaria de Leber
Columbié Garbey,Yannara Elina; Santiesteban Freixas,Rosaralis; Hernández Silva,Yaimara; Hernández Echavarría,Odelaisys;
Revista Cubana de Oftalmolog？-a , 2012,
Abstract: leber′s hereditary optic neuropathy is a maternally inherited disease characterized by subacute, painless and bilateral loss of the central vision, although not always at the same time. it predominates in young men and is caused by mitochondrial dna spot mutations. this is one of the most common hereditary and highly disabling optic neuropathy, the precise diagnosis of which is based on the molecular studies. the purpose of this article was to alert specialists on the possible diagnosis and increase of this impairment under favorable environmental conditions. a computerized search of scientific articles related to the subject was made in hinari and pubmed, which resulted in 37 publications during the years 1988 through 2010. several disease aspects such as historical background, risk factors, epidemiology, genetics, clinical features, diagnosis and treatment were studied and discussed, in addition to delving into current status of the disease in our country. several cuban families are presently known to be affected by leber′s hereditary optic neuropathy. the rise of incidence was probably due to environmental conditions that favor or are risk factors for this entity, as occurred during the last epidemic of optic neuropathy in cuba. every day there are more advances in the field of genetics that allows identifying a higher number of mutations associated with this disease. this event together with advanced knowledge of its clinical features has made it possible to identify the affected families and to control the risk factors.
Respuesta a la idebenona asociada a multivitaminoterapia en neuropatía óptica hereditaria de Leber Response to idebenone and multivitamin therapy in Leber’s hereditary optic neuropathy
N. Barnils,E. Mesa,S. Mu？oz,A. Ferrer-Artola
Archivos de la Sociedad Espa？ola de Oftalmología , 2007,
Abstract: Objetivo: Determinar la eficacia del tratamiento con idebenona y multivitamínico en la neuropatía óptica hereditaria de Leber (NOHL). Método: Dos pacientes diagnosticados de NOHL, fueron tratados con idebenona, vitamina C y riboflavina durante un a o. Ambos fueron evaluados clínicamente antes, durante y después del tratamiento. Resultado: Ninguno de los dos pacientes experimentó mejoría visual y ambos sufrieron afectación en el segundo ojo. Conclusiones: A pesar de casos publicados en la literatura de recuperación visual con idebenona en pacientes con NOHL, nuestra experiencia indica que este tratamiento no es efectivo para la enfermedad de Leber. Objective: To ascertain the efficacy of idebenone and multivitamin treatment in Leber’s hereditary optic neuropathy (LHON). Method: Two patients diagnosed of unilateral LHON were treated with megadoses of idebenone, vitamin C and riboflavin for one year. They were examined clinically before, during and after treatment. Results: No improvement of visual function was observed. Despite the idebenone treatment, in both cases the second eye became involved. Conclusions: Despite previous reports of visual recovery with idebenone in patients with LHON, our experience shows that an effective treatment for Leber’s disease remains to be found.
Diffusivity and quantitative T1 profile of human visual white matter tracts after retinal ganglion cell damage
Atsushi Miyazaki,Aviv A. Mezer,Hiromasa Takemura,Hiroshi Horiguchi,Keigo Shikishima,Kenji Matsumoto,Shumpei Ogawa,Tadashi Nakano,Yoichiro Masuda
- , 2019, DOI: 10.1016/j.nicl.2019.101826
Abstract: In patients with retinal ganglion cell diseases, recent diffusion tensor imaging (DTI) studies have revealed structural abnormalities in visual white matter tracts such as the optic tract, and optic radiation. However, the microstructural origin of these diffusivity changes is unknown as DTI metrics involve multiple biological factors and do not correlate directly with specific microstructural properties. In contrast, recent quantitative T1 (qT1) mapping methods provide tissue property measurements relatively specific to myelin volume fractions in white matter. This study aims to improve our understanding of microstructural changes in visual white matter tracts following retinal ganglion cell damage in Leber's hereditary optic neuropathy (LHON) patients by combining DTI and qT1 measurements. We collected these measurements from seven LHON patients and twenty age-matched control subjects. For all individuals, we identified the optic tract and the optic radiation using probabilistic tractography, and evaluated diffusivity and qT1 profiles along them. Both diffusivity and qT1 measurements in the optic tract differed significantly between LHON patients and controls. In the optic radiation, these changes were observed in diffusivity but were not evident in qT1 measurements. This suggests that myelin loss may not explain trans-synaptic diffusivity changes in the optic radiation as a consequence of retinal ganglion cell disease
Wolff
Claudia Stollberger,Edmund Gatterer,Josef Finsterer
- , 2018, DOI: 10.1177/0300060518765846
Abstract: This report describes a 66-year-old Caucasian male who acutely developed severe, bilateral impairment of visual acuity at 24 years of age. Leber’s hereditary optic neuropathy (LHON) was suspected but the diagnosis was not genetically confirmed until the age of 49 years when the primary LHON mutation m.3460G>A was detected. Since onset, visual acuity had slightly improved. The family history was positive for LHON (brother, two sisters of mother, female cousin) and genetically confirmed in his brother and one aunt. Since the age of 65 years, he had experienced recurrent vertigo. His cardiological history was positive for arterial hypertension, noncompaction, myocardial thickening, intermittent right bundle-branch-block (RBBB) and Wolff-Parkinson-White (WPW) syndrome. In addition to LHON, he presented with polyneuropathy, hyperCKaemia, carotid artery occlusion, and a history of stroke. Cardiological investigations at 66 years of age revealed mildly reduced systolic function, enlarged atria, and nonsustained ventricular tachycardias. He underwent an electrophysiological investigation, but radiofrequency ablation was ruled out due to a ‘bizarre’ cardiac conduction system. Instead, an implantable cardioverter defibrillator was proposed but refused by the patient. Since the vertigo did not resolve it was attributed to polyneuropathy. This case demonstrates that LHON may be associated with noncompaction, myocardial thickening, reduced systolic function, enlarged atria, RBBB, WPW syndrome and nonsustained ventricular tachycardias. WPW syndrome in LHON may require invasive antiarrhythmic treatment
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