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11/80. Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity.

    PURPOSE: To report the identification of a novel mutation of the RP2 gene in two Japanese brothers with X-linked retinitis pigmentosa of a differing clinical severity. The mother was a carrier of both retinitis pigmentosa and optic atrophy. methods: The older brother had a severe form of retinitis pigmentosa associated with macular degeneration and total optic atrophy, whereas the younger brother presented typical X-linked retinitis pigmentosa. RESULTS: Each patient exhibited a novel 2-bp insertion at codon 278 in exon 3 of the RP2 gene as well as a 11778 mutation in mitochondrial dna. This suggests that the older brother may have developed Leber hereditary optic neuropathy as well as retinitis pigmentosa. CONCLUSION: Molecular testing confirmed the clinical diagnosis in each case. However, such testing did not explain the differences in the severity of the ophthalmoscopic findings between the two brothers.
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ranking = 1
keywords = neuropathy
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12/80. Oval-shaped cornea, lens duplication, and optic nerve hypoplasia associated with myelomeningocele.

    Oval-shaped cornea associated with true lens duplication and separate capsules is a rare anomaly. It can occur as an isolated finding(1,2) or be associated with other ocular and facial maldevelopments.(3-5) We report a novel association of an hourglass cornea, lens duplication, and optic nerve hypoplasia with myelomeningocele in a male infant.
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ranking = 0.0042018944135714
keywords = nerve
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13/80. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

    Leber's hereditary optic neuropathy (LHON) is a common cause of bilateral optic nerve disease. The majority of LHON patients harbour one of three point mutations of the mitochondrial dna (mtDNA) complex I, or NADH:ubiquinone oxidoreductase (ND) genes (G11778A in ND4, G3460A in ND1, T14484C in ND6). As a consequence, screening for these mutations has become part of the routine clinical investigation of young adults who present with bilateral optic neuropathy, and the absence of these mutations is interpreted as indicating there is a low likelihood that an optic neuropathy is LHON. However, there are many individuals who develop the clinical features of LHON but who do not harbour one of these primary LHON mutations. We describe two LHON pedigrees that harbour the same novel point mutation within the mtDNA ND6 gene (A14495G). This mutation was heteroplasmic in both families, and sequencing of the mitochondrial genome confirmed that the mutation arose on two independent occasions. This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations. Protein modelling studies indicate that all of these pathogenic mutations lie within close proximity to one another in a hydrophobic cleft or pocket. This is the first evidence for a relationship between a specific disease phenotype and a specific structural domain within a mitochondrial respiratory chain subunit. These findings suggest that the mtDNA ND6 gene should be sequenced in all patients with LHON who do not harbour one of the three common LHON mutations.
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ranking = 2.5475436735062
keywords = nerve disease, neuropathy, nerve
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14/80. Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection.

    PURPOSE: Antiretroviral therapy has reduced the morbidity and mortality associated with human immunodeficiency virus (hiv) infection. However, side effects are increasingly recognized, including a commonly reported toxic mitochondrial myopathy. We report such a case of Leber hereditary optic neuropathy in a patient with antiretroviral therapy for hiv infection and speculate on a possible toxic etiologic role in the development of Leber hereditary optic neuropathy by a shared mitochondrial mechanism. methods: Case Report. Bilateral optic disk abnormalities observed in a 38-year-old hiv positive man with a family history of Leber hereditary optic neuropathy were documented with fundus photography, color vision testing, and visual field testing. Mitochondrial dna testing was used to confirm the genetic predisposition to Leber hereditary optic neuropathy. RESULTS: Progressive bilateral optic nerve pallor temporally associated with the administration of antiretroviral medication was observed. Diagnostic testing revealed progressive visual field and color vision loss as well as a mitochondrial dna mutation consistent with Leber hereditary optic neuropathy. CONCLUSION: Antiretroviral therapy may be associated with the onset of Leber hereditary optic neuropathy in genetically predisposed patients.
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ranking = 2.0008403788827
keywords = neuropathy, nerve
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15/80. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

    PURPOSE: Leber's hereditary optic neuropathy (LHON), though known to be due to 1 of 3 pathogenic mtDNA point mutations (nucleotide positions 11,778, 3460, and 14,484), usually manifests itself acutely in young adulthood with a stereotypical presentation of dyschromatopsia, loss of central vision, and loss of the papillomacular bundle nerve fiber layer. Histopathologic investigations have demonstrated devastating losses of axons with relative sparing of the most peripherally placed fibers in the optic nerves. This study was designed to morphometrically investigate the nerve fiber spectrum from ultrastructural studies of optic nerves obtained from 2 patients with LHON. methods: Two cases of LHON were molecularly characterized and the optic nerves from these cases studied by light microscopy and electron microscopy. Montages were made of electron micrographs cut orthogonal to fibers obtained from the periphery of each optic nerve, and these were then used for the measurement of each axon (short and long axis) and its myelin sheath. From this, a spectrum of nerve fiber layer was generated, yielding axon caliber profiles that could be compared between optic nerves. RESULTS: The total depletion of optic nerve fiber population in the 2 cases of LHON varied from 95% to 99%. Those fibers that were spared were limited to the peripheral optic nerve. The nerve fiber layer spectra of these remaining fibers showed a marked diminution of the first peak of axons of less than 1 micron in diameter, with relative emphasis of a second peak of axons of about 2 microns in diameter. In comparison to normal controls, this reflected a preferential loss of the smallest axons corresponding to the P-cell population. CONCLUSIONS: The clinical features of dyschromatopsia and central scotoma (with preservation of pupils) in LHON suggests the selective loss of the P-cell population known to subserve these (and not pupil) functions. This also correlates well with the fundus findings of early losses of the papillomacular bundle. The present study extends these findings to demonstrate a relative preservation of the M-cells in the optic nerve as reflected by the nerve fiber spectral profile. This selective loss of smaller fibers and their corresponding smaller retinal ganglion cells may, in addition to explaining the clinical features in LHON, provide valuable insights as to the exact pathophysiologic mechanisms by which mitochondrial impairment may induce apoptosis in vulnerable neurons.
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ranking = 1.0156131886665
keywords = neuropathy, nerve, peripheral
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16/80. Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report.

    Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) dna. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-dna revealed a point mutation at 11778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.
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ranking = 1
keywords = neuropathy
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17/80. wolff-parkinson-white syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy.

    Myocardial thickening and isolated left ventricular abnormal trabeculation (ILVAT) have not been described in patients with Leber's hereditary optic neuropathy (LHON) before. wolff-parkinson-white syndrome, myocardial thickening and ILVAT were found by electrocardiogram, echocardiography and cardiac magnetic resonance imaging in a 48-year-old man with bilateral, severely reduced visual acuity since age 24 years, palpitations since age 43 years and lower limb muscle cramps since age 47 years. Because ILVAT is frequently associated with respiratory chain disorders, neurological investigations were initiated, revealing the primary LHON mutation G3460A in lymphocytic mitochondrial dna. On the basis of the clinical and genetic data, LHON was diagnosed in the index patient, but also in the patient's brother who showed ILVAT as well. wolff-parkinson-white syndrome, myocardial thickening and ILVAT may be rare manifestations of LHON.
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ranking = 1
keywords = neuropathy
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18/80. mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia.

    A patient was diagnosed in 1974 with the unique combination of Leber hereditary optic neuropathy (LHON) and spondyloepiphyseal dysplasia. The entire mitochondrial dna (mtDNA) sequence from this patient was determined in order to identify candidate pathogenic mutations. The patient's mtDNA carried the LHON mutation at nucleotide 14484, thus elucidating the etiology of his optic neuropathy. We also identified another ND6 mutation at nucleotide 14420. This latter mutation is probably a clinically benign private polymorphism, although a pathogenic role in his skeletal abnormalities or in his optic neuropathy cannot yet be ruled out.
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ranking = 1.4
keywords = neuropathy
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19/80. Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma.

    OBJECTIVE: In patients with dominant optic atrophy (DOA, Kjer type), excavation of the optic nerve develops, and these patients may be misdiagnosed as having normal tension glaucoma (NTG). This study examined disc morphologic features in patients with DOA and explored features that help distinguish this condition from NTG. DESIGN: Noncomparative, observational case series. PARTICIPANTS: patients with DOA who were seen at the Duke University eye Center between 1987 and 1996 and who had bilateral optic nerve photographs. methods: Retrospective chart review of the results of visual acuity testing, visual field testing by Goldmann perimetry, color vision testing, intraocular pressure measurement, and observation of bilateral optic nerve photographs. MAIN OUTCOME MEASURES: Appearance of the optic disc and peripapillary zone in patients with DOA. RESULTS: Nine patients were identified. The mean age at the time of evaluation was 28 years (range, 11-62 years). Most patients had a mild to moderate reduction in visual acuity. color vision as tested with Hardy-Rand-Rittler plates was reduced (4.0/10 /- 4.2/10). A cup-to-disc ratio of more than 0.5 was observed in at least one eye of eight patients. A temporal wedge-shaped area of excavation was observed in 14 of the 18 eyes studied. Moderate to severe temporal pallor was observed in all of the eyes. pallor of the remaining (noncupped) neuroretinal rim was also observed consistently, ranging from mild to moderate. A gray crescent and some degree of peripapillary atrophy were noted in all eyes. CONCLUSIONS: Several clinical features, including early age of onset, preferential loss of central vision, sparing of the peripheral fields, pallor of the remaining neuroretinal rim, and a family history of unexplained visual loss or optic atrophy, help to distinguish patients with DOA from those with NTG.
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ranking = 0.0031845104783161
keywords = nerve, peripheral
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20/80. Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms.

    PURPOSE: To report a case of Leber hereditary optic neuropathy with multiple-sclerosis-like symptoms. methods: Observational case report. A 34-year-old man was found to have Leber hereditary optic neuropathy and a mutation at position 11778 of the mitochondrial genome. The progression of vision loss and onset of weakness in the right leg warranted neuroimaging. RESULTS: magnetic resonance imaging documented multiple lesions in the brain and spinal cord. CONCLUSION: Although rarely reported, progression of optic neuropathy over months has been previously documented in Leber hereditary optic neuropathy. The emergence of multiple sclerosis-like symptoms and signs in our patient may be part of the spectrum of Leber hereditary optic neuropathy or a coincidental occurrence.
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ranking = 1.8
keywords = neuropathy
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