current
NC_012920.1:m.14568C>T AND Leber's optic atrophy
current
classified by single submitter
Pathogenic
not provided
human
not provided
assert pathogenicity
curation
not provided
NC_012920.1:m.14568C>T
AC_000021.2:m.14568C>T
Leber's optic atrophy
Optic Atrophy, Hereditary, Leber
Leber Hereditary Optic Neuropathy
LHON
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). Some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), but many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many affected individuals display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists and many individuals do not fit neatly into one particular category. Common clinical features of mitochondrial disease include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, and diabetes mellitus. Common central nervous system findings are fluctuating encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spasticity. A high incidence of mid- and late pregnancy loss is a common occurrence that often goes unrecognized.
Mitochondrial inheritance
Adolescence / Young adulthood
1-9 / 100 000
20301403
20301353
current
pathologic
not provided
human
not provided
Assert pathogenicity
curation
not provided
AC_000021.2:m.14568C>T
Leber Hereditary Optic Neuropathy