Atypical Leber's Hereditary Optic Neuropathy With Molecular Confirmation

Weiner, Nancy Canter; Newman, Nancy J.; Lessell, Simmons; Johns, Donald R.; Lott, Marie T.; Wallace, Douglas C.

doi:10.1001/archneur.1993.00540050022009

Cited by 48 publications

(22 citation statements)

References 26 publications

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“…[19][20][21][22][23][24][25] Ortiz et al 21 studied the optic disc Table 5 A comparison of sectoral parameter measurements between whole normal eyes and eyes with compressive optic neuropathy appearance of seven patients with LHON with stereoscopic fundus photography. They described that all the patients showed increased disc cupping with C/D ratios of 0.7-0.9 and that six of them displayed the shallow cupping.…”

Section: Hrt Parameters In Optic Neuropathiesmentioning

confidence: 99%

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Nagai-Kusuhara

Nakamura

Kanamori

et al. 2007

Eye

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Purpose To test whether Heidelberg Retina Tomograph (HRT) is applicable to assess the optic nerve head (ONH) configuration of the atrophic phase of non-glaucomatous optic neuropathy when a default set of the reference plane is used. Methods Ten eyes with non-arteritic anterior ischaemic optic neuropathy (NAION), 17 eyes with Leber's hereditary optic neuropathy (LHON), 40 eyes with compressive optic neuropathy (CON) owing to chiasmal tumour, and 241 eyes of control individuals were examined with HRT using the default reference plane. The global values of HRT parameters were evaluated among the groups of patients and controls. The sectoral measurements of the eyes with LHON and CON were compared with controls. To eliminate the influence of disc size and age on HRT measurements, eyes with disc area-and age-matched normal controls were used for comparison with eyes with NAION and LHON. Results Cup parameters in eyes with NAION were similar to those in controls. The retinal nerve fibre layer (RNFL) thickness was significantly thinner in eyes with NAION than that of controls. The eyes with LHON had significantly larger cup parameters, smaller rim volume, and thinner mean RNFL thickness than controls. Eyes with CON had significantly larger rim area and smaller cup parameters but similar RNFL thickness compared with controls. Conclusions When the default reference plane is used, HRT can measure the ONH configuration in eyes with NAION and LHON as expected. However, caution must be made to interpret the parameters obtained from the eyes with CON.

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Section: Hrt Parameters In Optic Neuropathiesmentioning

confidence: 99%

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Nagai-Kusuhara

Nakamura

Kanamori

et al. 2007

Eye

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“…Field abnormalities mimicking the bitemporal configuration of chiasmal defects have also been reported. 32,33 In a few of these cases, the defects have strictly respected the vertical meridian.…”

Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

“…This feature, coupled with the relatively preserved pupillary responses and the lack of pain, has led to the misdiagnosis of nonorganic visual loss in some LHON patients. 33 Eventually, however, optic atrophy with nerve fibre layer dropout most pronounced in the papillomacular bundle supervenes. Nonglaucomatous cupping of the optic discs or arteriolar attenuation may also be seen in patients with symptomatic LHON.…”

Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

“…Some of these singleton cases are women, some outside the typical age range for LHON, some without the classic ophthalmoscopic appearance. 33 Clearly, the diagnosis of LHON should be considered in any case of unexplained bilateral optic neuropathy, regardless of age of onset, sex, family history, or funduscopic appearance.…”

Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

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Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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Aims To provide a clinical update on the hereditary optic neuropathies. Methods Review of the literature. Results The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based on familial expression or genetic analysis. In some hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. In others, various neurologic and systemic abnormalities are regularly observed. Conclusion The most common hereditary optic neuropathies are autosomal dominant optic atrophy (Kjer's disease) and maternally inherited Leber's hereditary optic neuropathy. We review the clinical phenotypes of these and other inherited disorders with optic nerve involvement.

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“…Among them, the point mutation detected with the highest frequency (80 to 90 per cent) in Japanese LHON patients (Nakamura et al 1992;Hotta et al 1995) is the nucleotide (nt) 11778 point mutation (Wallace et al 1988), which is widely accepted as an important genetic marker for diagnosis of LHON. Genetic diagnosis has also been applied to detect sporadic cases of LHON among acute or subacute bilateral optic neuropathy (BON) patients, whose clinical features resemble those of LHON patients, but in whom no family history of the disease exists (Newman et al 1991;Oda et al 1993;Weiner et al 1993;Morrissey et al, 1995).…”

Section: Eber Hereditary Optic Neuropathymentioning

confidence: 99%

Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations

Mitani

Miyazaki

Hayashi

et al. 1998

Acta Ophthalmologica Scandinavica

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ABSTRACT. Purpose: We evaluated the availability of archival histopathological preparations for genetic diagnosis of Leber hereditary optic neuropathy (LHON).Methods: Preparations of various tissues of an autopsied case of LHON, and of the optochiasmal arachnoidea of nine cases of bilateral optic neuropathy (BON) were studied to determine the presence of a point mutation of the mitochondrial DNA nucleotide (nt) 11778 using PCR method. Results: An nt11778 point mutation was detected in all preparations of the autopsied case. Five preparations out of six BON cases who were diagnosed as LHON based on positive family history, revealed this point mutation. This mutation was also detected in two of three BON patients with no family history of the disease. Conclusion:The archival preparations were found to be available as materials of genetic diagnosis for LHON, which indicated that it would be capable to reevaluate retrospectively the pedigree of LHON and BON cases.Key words: Leber hereditary optic neuropathy -bilateral optic neuropathy -genetic diagnosismtDNA nt11778 point mutation -stained histopathological preparations.

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Atypical Leber's Hereditary Optic Neuropathy With Molecular Confirmation

Cited by 48 publications

References 26 publications

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Hereditary optic neuropathies

Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations

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