|
|
|
Bilateral optic neuropathy Ophthalmoplegia with ptosis Pigmentary retinopathy Retrochiasmal visual loss
Disease Ophthalmic Manifestations CPEO/KSS Ophthalmoplegia* Ptosis* Pigmentary retinopathy* LHON Early Disc microangiopathy* Pseudo disc edema* Vascular tortuosity* Late Optic atrophy* MELAS Homonymous hemianopia* Cortical blindness* Pigmentary retinopathy* Ophthalmoplegia Optic atrophy NARP/Leigh's syndrome Pigmentary retinopathy* Optic atrophy MERRF Optic atrophy MIDD Macular dystrophy* MNGIE Ophthalmoplegia* Ptosis* Pigmentary retinopathy *Commonly found.CPEO, chronic progressive external ophthalmoplegia; KSS, Kearns-Sayre syndrome; LHON, Leber's hereditary optic neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; NARP, neurogenic muscle weakness, ataxia, and retinitis pigmentosa; MERRF, myoclonic epilepsy and ragged-red fibers; MIDD, maternally inherited diabetes mellitus and deafness; MINGIE, mitochondrial neurogastrointestinal encephalomyopathy.
Disease Systemic Manifestations CPEO/KSS Myopathy/ragged-red fibers* Peripheral neuropathy Deafness/vestibular dysfunction Dementia Ataxia Basal ganglia lesions Cardiac conduction abnormalities Short stature Gastrointestinal dysmotility Diabetes mellitus Delayed sexual maturation/hypogonadism Hypomagnesemia Hypoparathyroidism Hypothyroidism LHON Cardiac conduction abnormalities Multiple sclerosis-like illness Minor neurologic/skeletal abnormalities Dystonia/basal ganglia lesions Encephalopathy MELAS Headaches* Strokelike episodes* Seizures* Lactic acidosis* Psychiatric abnormalities Deafness Short stature Myopathy Basal ganglia lesions NARP/Leigh's syndrome Neurogenic muscle weakness* Ataxia* Developmental delay* Sensory neuropathy Dementia Seizures Spongiform degeneration of basal ganglia and brainstem MERRF Myoclonus* Seizures* Myopathy* Ataxia* Dementia* Developmental delay MIDD Diabetes mellitus* Deafness* MNGIE Gastrointestinal dysmotility* Cachexia* Sensorimotor peripheral neuropathy Leucoencephalopathy *Commonly found.CPEO, chronic progressive external ophthalmoplegia; KSS, Kearns-Sayre syndrome; LHON, Leber's hereditary optic neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; NARP, neurogenic muscle weakness, ataxia, and retinitis pigmentosa; MERRF, myoclonic epilepsy and ragged-red fibers; MIDD, maternally inherited diabetes mellitus and deafness; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy.
Disease Genetic Defects; Primary Mutations Affected Gene CPEO/KSS mtDNA rearrangements (deletions/duplications) Mostly sporadic nuclear DNA 10q23.3-24.3 Autosomal dominant 3p14.1-21.2 LHON 3460G-A ND1 Maternal inheritance 11778G-A ND4 mtDNA point mutations 14484T-C ND6 MELAS 3243A-G tRNA Maternal inheritance 3271 tRNA mtDNA point mutations 3291 tRNA 11084 ND4 13513 ND5 NARP/Leigh's syndrome 8993T-G ATPase 6 Maternal inheritance 8993T-C ATPase 6 mtDNA point mutations MERRF 8344A-G tRNA Maternal inheritance 8356T-C tRNA mtDNA point mutations MIDD 3243A-G tRNA Maternal inheritance 14709T-C tRNA mtDNA point mutations MNGIE nuclear DNA 13.32-qter Autosomal recessive Thy Phosphorylase gene CPEO, chronic progressive external ophthalmoplegia; KSS, Kearns-Sayre syndrome; LHON, Leber's hereditary optic neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; NARP, neurogenic muscle weakness, ataxia, and retinitis pigmentosa; MERRF, myoclonic epilepsy and ragged red fibers; MIDD, maternally inherited diabetes mellitus and deafness; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy.