Ladies with Leber's Hereditary Optic Neuropathy: An Atypical Disease

Dandekar, Samantha S.; Graham, Elizabeth; Plant, Gordon T.

doi:10.1177/112067210201200615

Cited by 17 publications

(11 citation statements)

References 15 publications

(19 reference statements)

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“…The clinical features of this 50‐year‐old woman is atypical for LHON. Three female patients with atypical LHON were reported, and the authors reported difficulties in making a diagnosis 3 . Because a delayed onset of LHON has been reported in patients over 60 years old, 4,7 diagnostic confusion may occur in older subjects.…”

Section: Discussionmentioning

confidence: 99%

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Clinical Case Notes

Sugisaka

Ohde

Shinoda

et al. 2007

Clinical Exper Ophthalmology

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We describe a patient with Leber's hereditary optic neuropathy (LHON) who had a unilateral involvement and a gradual recovery of vision. A 50-year-old woman was referred to our clinic in December 2004 for the treatment of left optic neuritis. The visual acuity was 0.01 in her left eye and 1.5 in her right eye. The left eye had a central scotoma and a relative afferent pupillary defect. Ophthalmoscopy revealed a hyperaemic optic disc with indistinct margins in the left eye. Fluorescein angiography showed circumpapillary microangiopathy in both eyes and staining of the left optic disc. An nt 11778 mutation was identified and she was diagnosed with LHON. The central scotoma gradually improved, and the visual acuity had recovered to 0.3 in August 2007. LHON should still be considered even in older female patients presenting with unilateral acute visual loss when microangiopathy is seen. In such cases, molecular testing is effective in confirming a diagnosis of LHON.

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Section: Discussionmentioning

confidence: 99%

“…Approximately 90% of Japanese with LHON have the nt 11778 mutation, which is associated with poor visual prognosis 2 . The incidence of atypical cases of LHON has recently increased because genetic diagnosis has become more widely applied 3,4 …”

Section: Introductionmentioning

confidence: 99%

Clinical Case Notes

Sugisaka

Ohde

Shinoda

et al. 2007

Clinical Exper Ophthalmology

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“…Such pre-excitation syndromes have been previously observed in families diagnosed with LHON and homoplasmic rather than heteroplasmic changes are typical of this mitochondrial disorder. 19,[27][28][29][30] Only one heteroplasmic mutation with a potential effect on protein function was identified in this patient group. This novel substitution (10677GϾA) was discovered in the NADH dehydrogenase subunit 4L of Patient 13, who was one of a set of dizygotic twins enrolled in the study.…”

Section: Prediction Of Functionally Pathogenic Effectsmentioning

confidence: 89%

Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy

Schrijver¹,

Pique

Traynis

et al. 2009

Genetics in Medicine

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Purpose: Mitochondrial DNA testing is typically performed by targeted mutation analysis only. We applied a more comprehensive approach to study the mitochondrial genome in 24 pediatric patients with idiopathic cardiomyopathy. Methods: Patients in the cohort did not show overt multisystemic disease and were previously tested for mutations in a subset of structural genes associated with cardiomyopathy. Mutation screening of the mitochondrial DNA by multiplex denaturing highperformance liquid chromatography was complemented by sequence analysis. Results: We identified 130 individual (unique) sequence changes. Among several potentially pathogenic changes, a novel heteroplasmic mutation in nicotinamide adenine dinucleotide dehydrogenase subunit 4 (10677GϾA) was identified in one fraternal twin with worse clinical symptoms than his sibling. Another proband carried homoplasmic mutation 13708GϾA (in nicotinamide adenine dinucleotide dehydrogenase subunit 5) that has been associated with Leber's hereditary optic neuropathy. Conclusions: Changes in mitochondrial DNA may represent a relatively rare cause of idiopathic pediatric cardiomyopathies and/or influence their phenotypic expression. Interpretation of variants with uncertain pathogenicity, however, currently impedes clinical diagnostic use of comprehensive mitochondrial DNA testing. Whereas combined use of multiplex denaturing high-performance liquid chromatography and sequencing is more comprehensive than targeted mutation analysis, measurement of additional functional parameters, such as tissue respiratory chain activity, remains important to establishing a definitive diagnosis. Genet Med 2009:11(2):118 -126.

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“…There is an increased risk of visual loss in males with these mtDNA variants, which is thought to reflect a protective effect of oestrogen in female carriers [56]. Most affected individuals have isolated ophthalmological symptoms, but there may be other clinical features such as dystonia [57] or cardiac conduction problems (Wolff–Parkinson–White) [58], and occasionally, LHON may overlap with Leigh syndrome and/or MELAS [59].…”

Section: Clinical Complexity: Canonical Syndromic Presentations Of Chmentioning

confidence: 99%

“…Sudden death is also a feature of PPA2 mutations, and implantation of a cardiac defibrillator may be life‐preserving in affected individuals [82]. Wolff–Parkinson–White has been reported in LHON, MELAS and Leigh syndrome caused by the m.13513G>A mutation [44,58,83]. Valvular heart disease is a rare feature of mitochondrial disease but has been documented in individuals with mutations in PDSS1 encoding a coenzyme Q 10 biosynthetic enzyme [84].…”

Section: Other Phenotypes: a Systems Approach To Mitochondrial Diseasmentioning

confidence: 99%