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Progressive external ophthalmoplegia(CPEO)

MedGen UID:
102439
Concept ID:
C0162674
Disease or Syndrome
Synonyms: CPEO; Ophthalmoplegia, Chronic Progressive External
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Mitochondrial inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: PEO - Progressive external ophthalmoplegia (46252003); Chronic progressive external ophthalmoplegia (46252003); CPEO - chronic progressive external ophthalmoplegia (46252003); Progressive external ophthalmoplegia (46252003); Graefe's disease (46252003); Chronic progressive ophthalmoplegia (46252003)
 
OMIM® Phenotypic series: PS157640
HPO: HP:0000590
Orphanet: ORPHA663

Definition

Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of cell structures called mitochondria and are known as ragged-red fibers.Although muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, and depression.Progressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include ataxia neuropathy spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.
[from GHR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Conditions with this feature

Kearns Sayre syndrome
MedGen UID:
9618
Concept ID:
C0022541
Disease or Syndrome
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
MedGen UID:
167876
Concept ID:
C0872218
Disease or Syndrome
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
MedGen UID:
371919
Concept ID:
C1834846
Disease or Syndrome
POLG -related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of thePOLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations ofPOLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called “chronic progressive external ophthalmoplegia plus,” or “CPEO+”).
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
MedGen UID:
373087
Concept ID:
C1836439
Disease or Syndrome
Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
MedGen UID:
322925
Concept ID:
C1836460
Disease or Syndrome
Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004). PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
MedGen UID:
375302
Concept ID:
C1843851
Disease or Syndrome
POLG -related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of thePOLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations ofPOLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called “chronic progressive external ophthalmoplegia plus,” or “CPEO+”).
Cerebellar ataxia infantile with progressive external ophthalmoplegia
MedGen UID:
340509
Concept ID:
C1850303
Disease or Syndrome
POLG -related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of thePOLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations ofPOLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called “chronic progressive external ophthalmoplegia plus,” or “CPEO+”).
Adult onset ataxia with oculomotor apraxia
MedGen UID:
395301
Concept ID:
C1859598
Disease or Syndrome
Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. Oculomotor apraxia, usually noticed a few years after the onset of ataxia, progresses to external ophthalmoplegia. All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. Intellect remains normal in some individuals; in others, different degrees of cognitive impairment have been observed.
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
MedGen UID:
350480
Concept ID:
C1864668
Disease or Syndrome
Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
MedGen UID:
413981
Concept ID:
C2751319
Disease or Syndrome
RRM2B -related mitochondrial disease can be grouped by disease pathogenesis, phenotype, and mode of inheritance into two major types: mitochondrial DNA (mtDNA) depletion and multiple mtDNA deletions. Mitochondrial DNA depletion usually manifests as severe multisystem disease (encephalomyopathy with proximal renal tubulopathy) and is often fatal in early life. Inheritance is autosomal recessive. Multiple mtDNA deletions cause tissue-specific cytochromecoxidase (COX) deficiency. Inheritance can be either autosomal recessive (with progressive external ophthalmoplegia [PEO] and multisystem involvement manifesting during early childhood/adulthood) or autosomal dominant (with less severe, often tissue-specific manifestations [e.g., chronic PEO] developing in later adulthood). Other rarer phenotypes are Kearns-Sayre syndrome (KSS) and mitochondrial neurogastrointestinal encephalopathy (MNGIE).
Mitochondrial DNA depletion syndrome 4B, MNGIE type
MedGen UID:
462264
Concept ID:
C3150914
Disease or Syndrome
POLG -related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of thePOLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations ofPOLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called “chronic progressive external ophthalmoplegia plus,” or “CPEO+”).
Mitochondrial DNA depletion syndrome 11
MedGen UID:
767376
Concept ID:
C3554462
Disease or Syndrome
Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
MedGen UID:
767513
Concept ID:
C3554599
Disease or Syndrome
PEOA6 is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by Ronchi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
MedGen UID:
901897
Concept ID:
C4225312
Disease or Syndrome
Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450).
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
MedGen UID:
934700
Concept ID:
C4310733
Disease or Syndrome
Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is an autosomal recessive disorder characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by Ronchi et al., 2012). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450).
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
MedGen UID:
934701
Concept ID:
C4310734
Disease or Syndrome

Recent clinical studies

Etiology

Gueguen A, Jardel C, Polivka M, Tan SV, Gray F, Vignal C, Lombès A, Gout O, Bostock H
Clin Neurophysiol 2017 Jul;128(7):1258-1263. Epub 2017 Apr 26 doi: 10.1016/j.clinph.2017.04.013. PMID: 28535487
Ji K, Liu K, Lin P, Wen B, Luo YB, Zhao Y, Yan C
Neurol Sci 2014 Mar;35(3):443-8. Epub 2013 Oct 4 doi: 10.1007/s10072-013-1557-8. PMID: 24091712
Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Griffiths PG, Blamire AM, Chinnery PF, Yu-Wai-Man P
PLoS One 2013;8(9):e75048. Epub 2013 Sep 27 doi: 10.1371/journal.pone.0075048. PMID: 24086434Free PMC Article
Pfeffer G, Mezei MM
Muscle Nerve 2012 Oct;46(4):593-6. doi: 10.1002/mus.23538. PMID: 22987704
Habek M, Barun B, Adamec I, Mitrović Z, Ozretić D, Brinar VV
Neurologist 2012 Sep;18(5):287-9. doi: 10.1097/NRL.0b013e318266f5a6. PMID: 22931735

Diagnosis

Lv ZY, Xu XM, Cao XF, Wang Q, Sun DF, Tian WJ, Yang Y, Wang YZ, Hao YL
Medicine (Baltimore) 2017 Dec;96(48):e8869. doi: 10.1097/MD.0000000000008869. PMID: 29310369Free PMC Article
Gueguen A, Jardel C, Polivka M, Tan SV, Gray F, Vignal C, Lombès A, Gout O, Bostock H
Clin Neurophysiol 2017 Jul;128(7):1258-1263. Epub 2017 Apr 26 doi: 10.1016/j.clinph.2017.04.013. PMID: 28535487
McClelland C, Manousakis G, Lee MS
Curr Neurol Neurosci Rep 2016 Jun;16(6):53. doi: 10.1007/s11910-016-0652-7. PMID: 27072953
Galetta F, Franzoni F, Mancuso M, Orsucci D, Tocchini L, Papi R, Speziale G, Gaudio C, Siciliano G, Santoro G
J Neurol Sci 2014 Oct 15;345(1-2):189-92. Epub 2014 Jul 28 doi: 10.1016/j.jns.2014.07.044. PMID: 25139213
Domenis DR, Okubo PM, Sobreira C, Dantas RO
Dig Dis Sci 2011 Aug;56(8):2343-8. Epub 2011 Mar 12 doi: 10.1007/s10620-011-1631-0. PMID: 21399928

Therapy

Chen T, Pu C, Shi Q, Wang Q, Cong L, Liu J, Luo H, Fei L, Tang W, Yu S
Int J Clin Exp Pathol 2014;7(12):8887-92. Epub 2014 Dec 1 PMID: 25674260Free PMC Article
Mancuso M, Orsucci D, Calsolaro V, LoGerfo A, Allegrini L, Petrozzi L, Simoncini C, Rocchi A, Trivella F, Murri L, Siciliano G
Acta Neurol Scand 2011 Dec;124(6):417-23. Epub 2011 Jun 8 doi: 10.1111/j.1600-0404.2011.01536.x. PMID: 21649612
Tinley C, Dawson E, Lee J
Strabismus 2010 Jun;18(2):41-7. doi: 10.3109/09273971003758388. PMID: 20521878
Brubaker JW, Mohney BG, Pulido JS
Ophthalmic Genet 2009 Mar;30(1):50-3. doi: 10.1080/13816810802572601. PMID: 19172512
Ahn J, Kim NJ, Choung HK, Hwang SW, Sung M, Lee MJ, Khwarg SI
Br J Ophthalmol 2008 Dec;92(12):1685-8. Epub 2008 Sep 11 doi: 10.1136/bjo.2008.144816. PMID: 18786957

Prognosis

Paramasivam A, Meena AK, Pedaparthi L, Jyothi V, Uppin MS, Jabeen SA, Sundaram C, Thangaraj K
Mitochondrion 2016 Jan;26:81-5. Epub 2015 Dec 12 doi: 10.1016/j.mito.2015.12.006. PMID: 26689116
Bisceglia M, Crociani P, Fogli D, Centola A, Galliani CA, Pasquinelli G
Adv Anat Pathol 2014 Nov;21(6):461-8. doi: 10.1097/PAP.0000000000000045. PMID: 25299315
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF
Brain 2014 May;137(Pt 5):1323-36. Epub 2014 Apr 10 doi: 10.1093/brain/awu060. PMID: 24727571Free PMC Article
Zhou L, Wang H, Wei J, Wang Y, Wang Y
Mitochondrial DNA 2014 Oct;25(5):385-6. Epub 2013 Jul 2 doi: 10.3109/19401736.2013.803097. PMID: 23815321
Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF
Arch Neurol 2007 Apr;64(4):553-7. doi: 10.1001/archneur.64.4.553. PMID: 17420318

Clinical prediction guides

Gueguen A, Jardel C, Polivka M, Tan SV, Gray F, Vignal C, Lombès A, Gout O, Bostock H
Clin Neurophysiol 2017 Jul;128(7):1258-1263. Epub 2017 Apr 26 doi: 10.1016/j.clinph.2017.04.013. PMID: 28535487
Bisceglia M, Crociani P, Fogli D, Centola A, Galliani CA, Pasquinelli G
Adv Anat Pathol 2014 Nov;21(6):461-8. doi: 10.1097/PAP.0000000000000045. PMID: 25299315
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF
Brain 2014 May;137(Pt 5):1323-36. Epub 2014 Apr 10 doi: 10.1093/brain/awu060. PMID: 24727571Free PMC Article
Zhou L, Wang H, Wei J, Wang Y, Wang Y
Mitochondrial DNA 2014 Oct;25(5):385-6. Epub 2013 Jul 2 doi: 10.3109/19401736.2013.803097. PMID: 23815321
Sato K, Yabe I, Yaguchi H, Nakano F, Kunieda Y, Saitoh S, Sasaki H
J Neurol 2011 Jul;258(7):1327-32. Epub 2011 Feb 8 doi: 10.1007/s00415-011-5936-x. PMID: 21301859

Recent systematic reviews

Kabunga P, Lau AK, Phan K, Puranik R, Liang C, Davis RL, Sue CM, Sy RW
Int J Cardiol 2015 Feb 15;181:303-10. Epub 2014 Dec 13 doi: 10.1016/j.ijcard.2014.12.038. PMID: 25540845
Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ
Am J Med Genet A 2009 May;149A(5):861-7. doi: 10.1002/ajmg.a.32731. PMID: 19353676
Sinnathuray AR, Raut V, Awa A, Magee A, Toner JG
Otol Neurotol 2003 May;24(3):418-26. PMID: 12806294

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