Late onset of Leber's hereditary optic neuropathy precipitated by anaemia

Saurabh, Goyal; Riordan-Eva, Paul; Coakes, Roger L.

doi:10.1038/sj.eye.6701388

Cited by 14 publications

(15 citation statements)

References 11 publications

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“…The onset of LHON disease in the elderly is uncommon, and fewer cases over age 60 have been described [9][10][11][12][13], generally with a poor prognosis as for visual recovery. A mixture of precipitating factors such as acute blood loss [11], chronic anemia [11], high eye pressure [11], and chronic alcohol intake [13] have been invoked in late-onset LHON.…”

Section: Introductionmentioning

confidence: 97%

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Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome

et al. 2010

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Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by bilateral painless optic atrophy and blindness. It usually occurs in young men in association with three major mutations in the mitochondrial genome (mtDNA). We report a patient with a history of alcohol abuse who developed at age 63 years visual impairment, sensorineural hearing loss, and memory dysfunction, suggestive of Susac's syndrome. The patient carried the heteroplasmic mt. 11778G>A mutation on the T2e mtDNA haplogroup. It remains unclear if chronic alcohol abuse combined with the mitochondrial genetic background prompted an aged-related neurodegeneration or deferred the onset of the LHON disease.

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Section: Introductionmentioning

confidence: 97%

“…A mixture of precipitating factors such as acute blood loss [11], chronic anemia [11], high eye pressure [11], and chronic alcohol intake [13] have been invoked in late-onset LHON.…”

Section: Introductionmentioning

confidence: 99%

Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome

et al. 2010

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“…In single cases with MERRF syndrome due to the A8344G mutation idiopathic sideroblastic anemia has been reported [47]. Hypoplastic anemia has also been described as a rare feature of LHON [48, 49] and FA [52]. MDS is characterized by severe psychomotor retardation, axial hypotonia, and disturbed pain perception leading to debilitating biting of the thumb, lower lip, and tongue.…”

Section: Syndromic Mids With Hematological Manifestationsmentioning

confidence: 99%

“…Syndromic MIDs, in which hematological abnormalities occasionally occur, are the LS [45, 46], also known as subacute necrotizing encephalopathy, MERRF syndrome [47], LHON [48, 49], CPEO (megaloblastic anemia) [50], mitochondrial depletion syndrome (MDS) [51], or FA [52]. Single cases with infantile LS may go along with vacuolization of bone marrow precursors, pancytopenia, or sideroblastic anemia [45].…”

Section: Syndromic Mids With Hematological Manifestationsmentioning

confidence: 99%

Hematological Manifestations of Primary Mitochondrial Disorders

Finsterer

2007

Acta Haematol

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At onset mitochondrial disorders (MID) frequently manifest as a mono-organic problem but turn into multisystem disease during the disease course in most of the cases. Organs/tissues most frequently affected in MID are the cerebrum, peripheral nerves, and the skeletal muscle. Additionally, most of the inner organs may be affected alone or in combination. Hematological manifestations of MID include aplastic, megaloblastic, or sideroblastic anemia, leukopenia, neutropenia, thrombocytopenia, or pancytopenia. In single cases either permanent or recurrent eosinophilia has been observed. Hematological abnormalities may occur together with syndromic or nonsyndromic MIDs. Syndromic MIDs, in which hematological manifestations predominate, are the Pearson syndrome (pancytopenia), Kearns-Sayre syndrome (anemia), Barth syndrome (neutropenia), and the autosomal recessive mitochondrial myopathy, lactic acidosis and sideroblastic anemia syndrome. In single cases with Leigh’s syndrome, MERRF (myoclonic epilepsy and ragged-red fiber) syndrome, Leber’s hereditary optic neuropathy, and Friedreich’s ataxia anemia has been described. Anemia, leukopenia, thrombocytopenia, eosinophilia, or pancytopenia can frequently also be found in nonsyndromic MIDs with or without involvement of other tissues. Therapy of blood cell involvement in MID comprises application of antioxidants, vitamins, iron, bone marrow-stimulating factors, or substitution of cells.

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“…One of the authors (G.T.P.) has seen only 1 case of Leber’s hereditary optic neuropathy who retained driving-standard VA, but the literature suggests that, due to the potential for partial recovery in young patients, this might be slightly more frequent (VA ranged from light perception to 6/9) [1, 65, 127, 175, 176, 189]. …”

Section: Disorders With Pcsmentioning

confidence: 99%