Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 52
Filtrar
Mais filtros










Intervalo de ano de publicação
1.
J Fr Ophtalmol ; 42(3): 269-275, 2019 Mar.
Artigo em Francês | MEDLINE | ID: mdl-30712826

RESUMO

INTRODUCTION: Leber's Hereditary Optic Neuropathy (LHON) causes a rapid and severe decrease in visual acuity. Raxone® (Idebenone, Santhera) is the only drug to have a European Marketing Authorization for the treatment of this optic neuropathy. It can be proposed in the first months after the onset of this optic neuropathy, according to an international consensus meeting. PATIENTS AND METHODS: Retrospective study of the efficacy of Raxone® on the visual acuity of patients with genetically confirmed LHON who were followed in four Parisian hospitals. The primary endpoint is the best recovery of LogMar visual acuity between baseline and the end of follow-up. The secondary endpoints are the evolution of LogMar visual acuity of the best eye at baseline and change in LogMar visual acuity for each eye considered separately. RESULTS: Seventeen patients, three women and 14 men, mean age 34.2 years, naive to treatment with Raxone® were included in this study. The mean duration of treatment was 11.0±6.6 months. A mitochondrial DNA mutation was found in all patients. Only 2 had the 14484 mutation. A recovery of better LogMar visual acuity was found at the end of the treatment for 4 eyes (23.5 %), and a deterioration was observed for 8 (47.0 %). Only 2 eyes (11.7 %) with the best visual acuity at baseline improved. On the other hand, 17.6 % of the eyes considered separately had an improvement in their LogMar visual acuity at the end of the treatment. CONCLUSION: The results confirm the trend of Raxone® treatment to improve patients' visual acuity. Given the recommendations of a consensus conference, this treatment should be started early after the onset of LHON. It is therefore important to look for this diagnosis in the presence of any hereditary optic neuropathy, in order to be able to initiate this treatment.


Assuntos
Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Ubiquinona/análogos & derivados , Adolescente , Adulto , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia Óptica Hereditária de Leber/patologia , Atrofia Óptica Hereditária de Leber/fisiopatologia , Paris , Estudos Retrospectivos , Resultado do Tratamento , Ubiquinona/uso terapêutico , Acuidade Visual/efeitos dos fármacos , Adulto Jovem
2.
BMJ Case Rep ; 11(1)2018 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-30567205

RESUMO

A 28-year-old Caucasian man developed sudden painless vision loss in the right eye. He was diagnosed with optic neuritis. MRI showed white matter lesions consistent with multiple sclerosis (MS), but no optic nerve enhancement. Eight months later, the left eye was affected in the same manner. Examination showed right optic atrophy and apparent left optic disc swelling. Workup revealed positive Lyme IgG. Differential diagnosis included optic neuritis and Lyme optic neuropathy, and he was treated with intravenous steroids, intravenous immunoglobulin, plasmapheresis and intravenous ceftriaxone without improvement. Neuro-ophthalmology consultation led to identification of pseudo-optic disc oedema, and Leber's hereditary optic neuropathy (LHON) was suspected and confirmed by genetic testing. LHON may occur in association with MS, and should be considered in patients with MS with vision loss atypical for optic neuritis. This is especially important as new treatments for LHON (including gene therapy) are currently undergoing clinical trials.


Assuntos
Erros de Diagnóstico , Doença de Lyme/diagnóstico , Esclerose Múltipla/complicações , Atrofia Óptica Hereditária de Leber/diagnóstico , Neurite Óptica/diagnóstico , Adulto , Antioxidantes/uso terapêutico , Diagnóstico Diferencial , Humanos , Imagem por Ressonância Magnética , Masculino , Esclerose Múltipla/diagnóstico por imagem , Atrofia Óptica Hereditária de Leber/complicações , Atrofia Óptica Hereditária de Leber/diagnóstico por imagem , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Ubiquinona/análogos & derivados , Ubiquinona/uso terapêutico , Baixa Visão/etiologia , Substância Branca/diagnóstico por imagem
3.
Tidsskr Nor Laegeforen ; 138(12)2018 08 21.
Artigo em Norueguês | MEDLINE | ID: mdl-30132618

RESUMO

BACKGROUND: The diagnosis of acute optic neuropathy is made clinically. In young patients demyelinating optic neuritis is the most common cause. However, other autoimmune diseases, infections and other non-inflammatory conditions may also cause inflammation. Careful clinical workup is necessary to establish the correct diagnosis and treatment. We describe the clinical approach to a case of acute optic neuropathy with several atypical features. The same case was published in the Journal of Neuro-Ophthalmology. CASE PRESENTATION: A male teenager developed acute and painless bilateral visual loss. Fundoscopy revealed optic disc hypaeremia with telangiectasia. Magnetic resonance imaging demonstrated contrast enhancement of the optic nerves and chiasm without evidence of demyelinating disease. There was no visual improvement after methylprednisolone treatment. Genetic analysis for the 3 common Leber hereditary optic neuropathy (LHON) mutations was negative. However, idebenone treatment was followed by a marked improvement in visual function. Whole mitochondrial genome sequencing eventually detected a rare LHON mutation. INTERPRETATION: There are many different causes of acute optic neuropathy. Making the correct diagnosis is important, as clinical management differs. Idebenone is now a treatment option for LHON. Whole mitochondrial genome sequencing is sometimes necessary to confirm the diagnosis.


Assuntos
Atrofia Óptica Hereditária de Leber , Transtornos da Visão/etiologia , Adolescente , Antioxidantes/administração & dosagem , Antioxidantes/uso terapêutico , Humanos , Masculino , Oftalmoscopia , Atrofia Óptica Hereditária de Leber/complicações , Atrofia Óptica Hereditária de Leber/diagnóstico , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Atrofia Óptica Hereditária de Leber/genética , Mutação Puntual , Resultado do Tratamento , Ubiquinona/administração & dosagem , Ubiquinona/análogos & derivados , Ubiquinona/uso terapêutico , Testes de Campo Visual
4.
Orphanet J Rare Dis ; 13(1): 33, 2018 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-29454364

RESUMO

BACKRGROUND: Evaluation of the efficacy of oral cyclosporine A as a prophylactic agent in preventing second-eye involvement in Leber's hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multicenter pilot study. Only LHON patients aged 18 years or more, with confirmed primary mitochondrial DNA mutations and strictly unilateral optic neuropathy occurring within 6 months prior to enrolment, were included in the study. All these patients, receiving treatment with oral cyclosporine (Neoral®, Novartis) at 2.5 mg/kg/day, were examined at three-month intervals for a year. The primary endpoint was the best corrected visual acuity in the unaffected eye; the secondary endpoints were the best corrected visual acuity in the first eye affected, the mean visual field defect on automated perimetry, the thickness of the perifoveal retinal ganglion cell inner plexiform layer, and the thickness of the peripapillary retinal nerve fiber layer in both eyes. RESULTS: Among the 24 patients referred to our institution with genetically confirmed LHON, between July 2011 and April 2014, only five patients, four males and one female, fulfilled the inclusion criteria. Age at enrolment ranged from 19 to 42 years (mean: 27.2 years; median: 26 years), four patients harbored the m.11778G > A pathogenic variant, and one the m.14484 T > C pathogenic variant. The time-interval between the onset of symptoms and inclusion in the study ranged from 7 to 17 weeks (mean: 11.8 weeks; median: 9 weeks). Despite treatment with oral cyclosporine A, all patients eventually experienced bilateral eye involvement, occurring within 11-65 weeks after the initiation of treatment. Over the study time period, the average best corrected visual acuity worsened in the first eye affected; by the end of the study, both eyes were equally affected. CONCLUSIONS: Oral cyclosporine, at 2.5 mg/kg/day, did not prevent second-eye involvement in patients with strictly unilateral Leber's hereditary optic neuropathy. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02176733 . Registrated June 25, 2014.


Assuntos
Ciclosporina/uso terapêutico , Imunossupressores/uso terapêutico , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Adulto , Ciclosporina/efeitos adversos , Feminino , Humanos , Imunossupressores/efeitos adversos , Masculino , Projetos Piloto , Adulto Jovem
6.
BMC Ophthalmol ; 17(1): 192, 2017 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-29047345

RESUMO

BACKGROUND: Patients with Leber hereditary optic neuropathy (LHON) have a progressive decrease of their visual acuity which can deteriorate to <0.1. Some patients can have a partial recovery of their vision in one or both eyes. One prognostic factor associated with a recovery of vision is an early-age onset. The purpose of this study was to determine other clinical factors that are predictive of a good visual recovery. METHODS: Sixty-one Japanese LHON patients, with the 11,778 mutation and a mean age of 23.1 ± 12.1 years at the onset, were studied. All patients were initially examined at an acute stage of LHON and were followed for 3 to 10 years. At 1 year after the onset, the lowest visual acuity was <0.1 in all eyes. We studied the following parameters of patients with/without a final visual acuity of ≥ 0.2: sex; heavy consumption of cigarettes and alcohol; taking idebenone; mean age at onset; mean lowest visual acuity; and distribution of the lowest and the final visual acuity. RESULTS: Fifteen (24.6%) of the 61 patients or 25 (20.5%) of the 122 eyes had a recovery of their visual acuity to ≥ 0.2. The mean age at onset of these 15 patients with visual recovery to ≥ 0.2 was 17.5 ± 7.7 years, and that of the 46 patients without visual recovery to ≥ 0.2 was 25.0 ± 12.8 years (P = 0.02, Mann-Whitney U test). The mean lowest visual acuity of the 25 eyes with visual recovery ≥ 0.2 was 0.04, and that of the 97 eyes without visual recovery to ≥ 0.2 was 0.015 (P < 0.001, Mann-Whitney U test). Fifty percent (15/30) of the eyes whose lowest visual acuity was ≥ 0.04 during 1 year after the onset had a visual recovery to ≥ 0.2, while 11% (10/92) of the eyes whose the lowest visual acuity was ≤ 0.03 had a visual recovery to ≥ 0.2 (P < 0.001, χ 2 test). There were no significant differences in the other clinical factors. CONCLUSION: A final visual acuity of ≥ 0.2 was associated with a less severe reduction of the visual acuity at 1 year after the onset. Our findings can be used to predict the visual prognosis in LHON patients.


Assuntos
Antioxidantes/uso terapêutico , Ácido Ascórbico/uso terapêutico , Atrofia Óptica Hereditária de Leber/fisiopatologia , Ubiquinona/análogos & derivados , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia , Adolescente , Adulto , Idade de Início , Idoso , Criança , Análise Mutacional de DNA , DNA Mitocondrial/genética , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Atrofia Óptica Hereditária de Leber/genética , Mutação Puntual , Reação em Cadeia da Polimerase , Prognóstico , Recuperação de Função Fisiológica/fisiologia , Estudos Retrospectivos , Riboflavina/uso terapêutico , Ubiquinona/uso terapêutico , Transtornos da Visão/tratamento farmacológico , Transtornos da Visão/genética , Testes de Campo Visual , Complexo Vitamínico B/uso terapêutico , Adulto Jovem
7.
J Neuroophthalmol ; 37(4): 371-381, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28991104

RESUMO

Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and natural history is now fairly well understood. LHON also is the first mitochondrial disease for which a treatment has been approved (idebenone-Raxone, Santhera Pharmaceuticals) by the European Medicine Agency, under exceptional circumstances because of the rarity and severity of the disease. However, what remains unclear includes the optimal target population, timing, dose, and frequency of administration of idebenone in LHON due to lack of accepted definitions, criteria, and general guidelines for the clinical management of LHON. To address these issues, a consensus conference with a panel of experts from Europe and North America was held in Milan, Italy, in 2016. The intent was to provide expert consensus statements for the clinical and therapeutic management of LHON based on the currently available evidence. We report the conclusions of this conference, providing the guidelines for clinical and therapeutic management of LHON.


Assuntos
Consenso , Gerenciamento Clínico , Oftalmologia , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Sociedades Médicas , Ubiquinona/análogos & derivados , Antioxidantes/uso terapêutico , Congressos como Assunto , Humanos , Cooperação Internacional , Ubiquinona/uso terapêutico
9.
Invest Ophthalmol Vis Sci ; 58(4): 2193-2197, 2017 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-28403426

RESUMO

Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance. Methods: We identified 27 LHON subjects who possess heteroplasmic primary LHON mutations. Mitochondrial DNA (mtDNA) copy number was evaluated. Results: The presence of centrocecal scotoma, an edematous, hyperemic optic nerve head, and vascular tortuosity, as well as telangiectasia was recognized in affected subjects. We found higher cellular mtDNA content in peripheral blood cells of unaffected heteroplasmic mutation carriers with respect to the affected. Conclusions: The increase of cellular mtDNA content prevents complete loss of vision despite the presence of a heteroplasmic state of LHON primary mutation, suggesting that it is a key factor responsible for penetrance of LHON.


Assuntos
Cegueira/prevenção & controle , Variações do Número de Cópias de DNA , DNA Mitocondrial/genética , Mitocôndrias/genética , Doenças Mitocondriais/genética , Mutação , Atrofia Óptica Hereditária de Leber/genética , Antioxidantes/uso terapêutico , Feminino , Genes Mitocondriais/genética , Humanos , Masculino , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/tratamento farmacológico , Atrofia Óptica Hereditária de Leber/diagnóstico , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Ubiquinona/análogos & derivados , Ubiquinona/uso terapêutico , Acuidade Visual
10.
Invest Ophthalmol Vis Sci ; 58(4): 2406-2412, 2017 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-28444329

RESUMO

Purpose: Benzalkonium chloride (BAK) is the most commonly used eye drop preservative. Benzalkonium chloride has been associated with toxic effects such as "dry eye" and trabecular meshwork degeneration, but the underlying biochemical mechanism of ocular toxicity by BAK is unclear. In this study, we propose a mechanistic basis for BAK's adverse effects. Method: Mitochondrial O2 consumption rates of human corneal epithelial primary cells (HCEP), osteosarcoma cybrid cells carrying healthy (control) or Leber hereditary optic neuropathy (LHON) mutant mtDNA [11778(G>A)], were measured before and after acute treatment with BAK. Mitochondrial adenosine triphosphate (ATP) synthesis and cell viability were also measured in the BAK-treated control: LHON mutant and human-derived trabecular meshwork cells (HTM3). Results: Benzalkonium chloride inhibited mitochondrial ATP (IC50, 5.3 µM) and O2 consumption (IC50, 10.9 µM) in a concentration-dependent manner, by directly targeting mitochondrial complex I. At its pharmaceutical concentrations (107-667 µM), BAK inhibited mitochondrial function >90%. In addition, BAK elicited concentration-dependent cytotoxicity to cybrid cells (IC50, 22.8 µM) and induced apoptosis in HTM3 cells at similar concentrations. Furthermore, we show that BAK directly inhibits mitochondrial O2 consumption in HCEP cells (IC50, 3.8 µM) at 50-fold lower concentrations than used in eye drops, and that cells bearing mitochondrial blindness (LHON) mutations are further sensitized to BAK's mitotoxic effect. Conclusions: Benzalkonium chloride inhibits mitochondria of human corneal epithelial cells and cells bearing LHON mutations at pharmacologically relevant concentrations, and we suggest this is the basis of BAK's ocular toxicity. Prescribing BAK-containing eye drops should be avoided in patients with mitochondrial deficiency, including LHON patients, LHON carriers, and possibly primary open-angle glaucoma patients.


Assuntos
Compostos de Benzalcônio/toxicidade , Mitocôndrias/efeitos dos fármacos , Soluções Oftálmicas/toxicidade , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Conservantes Farmacêuticos/toxicidade , Trifosfato de Adenosina/metabolismo , Linhagem Celular , Sobrevivência Celular/efeitos dos fármacos , Células Epiteliais/efeitos dos fármacos , Células Epiteliais/metabolismo , Humanos , Mitocôndrias/metabolismo , Consumo de Oxigênio/efeitos dos fármacos
12.
BMC Neurol ; 16(1): 197, 2016 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-27756254

RESUMO

BACKGROUND: Leber's hereditary optic neuropathy (LHON) co-occuring with multiple sclerosis-like disease (LHON-MS) is suggested to be a separate disease entity denoted Harding's disease. Little is known about the response to initiation and discontinuation of potent immunomodulatory treatment in LHON-MS. CASE PRESENTATION: We describe a LHON-MS patient with 27 years disease duration who developed severe disease activity peaking 14 months after discontinuation of natalizumab, with extensive new inflammatory lesions throughout the brain and in the spinal cord resembling immune inflammatory reconstitution syndrome. She had previously been clinically and radiologically stable on natalizumab treatment for 6 years, and before that only experienced subtle clinical activity during 9 years on interferon beta1a. CONCLUSION: This is the first report on severe exacerbation of inflammatory disease activity after discontinuation of natalizumab in LHON-MS, and suggests that late rebound activity can occur in these patients.


Assuntos
Inflamação/complicações , Esclerose Múltipla/complicações , Esclerose Múltipla/patologia , Natalizumab/administração & dosagem , Natalizumab/uso terapêutico , Atrofia Óptica Hereditária de Leber/complicações , Atrofia Óptica Hereditária de Leber/patologia , Recidiva , Adulto , Encéfalo/patologia , Feminino , Humanos , Inflamação/diagnóstico por imagem , Inflamação/patologia , Imagem por Ressonância Magnética , Masculino , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/tratamento farmacológico , Atrofia Óptica Hereditária de Leber/diagnóstico por imagem , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Medula Espinal/patologia , Fatores de Tempo
13.
Mitochondrion ; 30: 177-86, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27497748

RESUMO

Inherited mitochondrial complex I mutations cause blinding Leber's hereditary optic neuropathy (LHON), for which no curative therapy exists. A specific biochemical consequence of LHON mutations in the presence of trace rotenone was observed: deficient complex I-dependent ATP synthesis (CIDAS) and mitochondrial O2 consumption, proportional to the clinical severity of the three primary LHON mutations. We optimized a high-throughput assay of CIDAS to screen 1600 drugs to 2, papaverine and zolpidem, which protected CIDAS in LHON cells concentration-dependently. TSPO and cAMP were investigated as protective mechanisms, but a conclusive mechanism remains to be elucidated; next steps include testing in animal models.


Assuntos
Trifosfato de Adenosina/biossíntese , Complexo I de Transporte de Elétrons/metabolismo , Redes e Vias Metabólicas/efeitos dos fármacos , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Papaverina/metabolismo , Piridinas/metabolismo , Linhagem Celular , Avaliação Pré-Clínica de Medicamentos , Humanos , Zolpidem
14.
Drugs Today (Barc) ; 52(3): 173-81, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27186591

RESUMO

Idebenone is a rapidly absorbed, safe and well-tolerated drug and is currently the only clinically proven treatment option for Leber's hereditary optic neuropathy (LHON) patients. Idebenone (Raxone®) is approved by the European Medicines Agency for the treatment of LHON and has been available on the European market since 2015. Due to its molecular mode of action of bypassing the defective mitochondrial complex I, idebenone leads to improved energy supply and a functional recovery of retinal ganglion cells during the acute stage of the disease, thereby preventing further vision loss and promoting recovery of vision. Thus, commencing treatment shortly after the onset of symptoms is likely to have the best therapeutic effect, a hypothesis that is supported by the available clinical data.


Assuntos
Antioxidantes/uso terapêutico , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Ubiquinona/análogos & derivados , Humanos , Ubiquinona/uso terapêutico
15.
Drugs ; 76(7): 805-13, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27071925

RESUMO

Idebenone (Raxone(®)), a short-chain benzoquinone, is the only disease-specific drug approved to treat visual impairment in adolescents and adults with Leber's hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes rapid and progressive bilateral vision loss. The mechanism of action of idebenone involves its antioxidant properties and ability to act as a mitochondrial electron carrier. Idebenone overcomes mitochondrial complex I respiratory chain deficiency in patients with LHON by transferring electrons directly to mitochondrial complex III (by-passing complex I), thereby restoring cellular energy (ATP) production and re-activating inactive-but-viable retinal ganglion cells, which ultimately prevents further vision loss and promotes vision recovery. The approval of idebenone in the treatment of LHON was based on the overall data from a randomized clinical trial, a follow-up study and real-world data. Taken together, these studies provide convincing evidence that oral idebenone 900 mg/day for 24 weeks has persistent beneficial effects in preventing further vision impairment and promoting vision recovery in patients with LHON relative to the natural course of the disease. Therefore, idebenone is a valuable agent to treat visual impairment in adolescents and adults with LHON.


Assuntos
Antioxidantes/uso terapêutico , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Ubiquinona/análogos & derivados , Antioxidantes/administração & dosagem , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Ubiquinona/administração & dosagem , Ubiquinona/uso terapêutico
17.
Ophthalmologica ; 235(1): 49-56, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26540208

RESUMO

We are presenting two Leber's hereditary optic neuropathy (LHON) pedigrees with abnormal magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (H-MRS) findings but without neurological manifestation associated with LHON. The study included 14 LHON patients and 41 asymptomatic family members from 12 genealogically unrelated families. MRI showed white matter involvement and H-MRS exhibited metabolic anomalies within 12 LHON families. Main outcome measures were abnormal MRI and H-MRS findings in two pedigrees. MRI of the proband of the first pedigree showed a single demyelinating lesion in the right cerebellar hemisphere, while the proband of the second family displayed multiple supratentorial and infratentorial lesions, compatible with the demyelinating process, and both the absolute choline (Cho) concentration and Cho/creatinine ratio were increased. MRI and H-MRS profiles of both affected and unaffected mitochondrial DNA mutation carriers suggest more widespread central nervous involvement in LHON. Although even after 12 years our patients did not develop neurological symptoms, MRI could still be used to detect possible changes during the disease progression.


Assuntos
Doenças Desmielinizantes/diagnóstico , Atrofia Óptica Hereditária de Leber/diagnóstico , Substância Branca/patologia , Adulto , Idoso , Colina , Creatinina , DNA Mitocondrial/genética , Doenças Desmielinizantes/tratamento farmacológico , Doenças Desmielinizantes/genética , Feminino , Glucocorticoides/administração & dosagem , Humanos , Imagem por Ressonância Magnética , Masculino , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/tratamento farmacológico , Doenças Mitocondriais/genética , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Atrofia Óptica Hereditária de Leber/genética , Linhagem , Mutação Puntual , Espectroscopia de Prótons por Ressonância Magnética , Pulsoterapia , Acuidade Visual/fisiologia
19.
Hong Kong Med J ; 20(5): 451-4, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25307075

RESUMO

We report a case of a young Chinese male presenting with sequential, painless, bilateral visual loss in Hong Kong. He was diagnosed to have Leber's hereditary optic neuropathy with genetic workup showing G11778A mutation with over 80% heteroplasmy. He was started on idebenone treatment 11 months after onset of the binocular disease. To our best knowledge, this is the first case of Leber's hereditary optic neuropathy treated with idebenone in Hong Kong. The recent evidence of the diagnosis and treatment of this devastating disease is reviewed.


Assuntos
Antioxidantes/uso terapêutico , Atrofia Óptica Hereditária de Leber/diagnóstico , Ubiquinona/análogos & derivados , Adolescente , Antioxidantes/administração & dosagem , Diagnóstico Diferencial , Hong Kong , Humanos , Masculino , Atrofia Óptica Hereditária de Leber/tratamento farmacológico , Ubiquinona/administração & dosagem , Ubiquinona/uso terapêutico , Acuidade Visual
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA