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Undetectable visual evoked potentials

MedGen UID:
376697
Concept ID:
C1850069
Finding
Synonym: Absence of visual evoked potentials
 
HPO: HP:0007965

Term Hierarchy

Conditions with this feature

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
MedGen UID:
318633
Concept ID:
C1832466
Disease or Syndrome
ATP1A3-related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy with cerebellar ataxia (RECA) / fever-induced paroxysmal weakness and encephalopathy (FIPWE); and rapid-onset dystonia-parkinsonism (RDP). These phenotypes exist on a spectrum and should be regarded as classifications of convenience. AHC is characterized by onset prior to age 18 months of paroxysmal hemiplegic episodes, predominately involving the limbs and/or the whole body, lasting from minutes to hours to days (and sometimes weeks) with remission only during sleep, only to resume after awakening. Although paroxysmal episodic neurologic dysfunction predominates early in the disease course, with age increasingly persistent neurologic dysfunction predominates, including oculomotor apraxia and strabismus, dysarthria, speech and language delay, developmental delay, and impairment in social skills. Other system involvement may include cardiovascular (cardiac conduction abnormalities) and gastrointestinal (constipation, vomiting, anorexia, diarrhea, nausea, and abdominal pain) manifestations. CAPOS syndrome presents in infancy or childhood (usually ages 6 months to 5 years) with cerebellar ataxia during or after a fever. The acute febrile encephalopathy may include hypotonia, flaccidity, nystagmus, strabismus, dysarthria/anarthria, lethargy, loss of consciousness, and even coma. Usually, considerable recovery occurs within days to weeks; however, persistence of some degree of ataxia and other manifestations is typical. RECA/FIPWE primarily presents with fever-induced episodes (infancy to age 5 years); however, first episodes can occur occasionally in young adults during illnesses such as mononucleosis. Recurrent fever-induced episodes may be ataxia-dominated RECA-like motor manifestations or FIPWE-like non-motor manifestations (encephalopathy) and can vary among affected individuals. Notably, RECA-like and FIPWE-like manifestations can occur in the same individual in different episodes. In some individuals episodes seem to decrease in frequency and severity over time, whereas others might experience worsening of manifestations. RDP presents in individuals ages 18 months to 60 years and older with dystonia that is typically of abrupt onset over hours to several weeks, though some individuals report gradual onset over the course of months. A stress-related trigger is identifiable in up to 75% of individuals. Dystonia rarely improves significantly after onset; some individuals report mild improvement over time, whereas others can experience subsequent episodes of abrupt worsening months to years after onset. Limbs are usually the first to be affected, although by the time of diagnosis – typically many years after onset – individuals most commonly display a bulbar-predominant generalized dystonia. Exceptions are common and a rostrocaudal gradient is rare rather than typical. Migraines and seizures are also observed.
Mitochondrial complex I deficiency
MedGen UID:
374101
Concept ID:
C1838979
Disease or Syndrome
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
PEHO syndrome
MedGen UID:
342404
Concept ID:
C1850055
Disease or Syndrome
PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral edema (summary by Anttonen et al., 2017).
Autosomal recessive osteopetrosis 5
MedGen UID:
409627
Concept ID:
C1968603
Disease or Syndrome
Autosomal recessive osteopetrosis-5 (OPTB5) is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (summary by Quarello et al., 2004).
Warburg micro syndrome 2
MedGen UID:
481844
Concept ID:
C3280214
Disease or Syndrome
RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.
Mitochondrial complex 4 deficiency, nuclear type 7
MedGen UID:
1754683
Concept ID:
C5436685
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Massa et al., 2008 and Abdulhag et al., 2015). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

Recent clinical studies

Etiology

Desjardins JA, Segalowitz SJ
J Vis 2013 Apr 25;13(5) doi: 10.1167/13.5.22. PMID: 23620532
Tay SA, Sanjay S
Indian J Ophthalmol 2012 Jul;60(4):330-2. doi: 10.4103/0301-4738.98724. PMID: 22824610Free PMC Article
Link B, Schlötzer-Schrehardt U, Jünemann A
Retina 2009 Jan;29(1):69-72. doi: 10.1097/IAE.0b013e3181853d06. PMID: 18728619
Birtles DB, Braddick OJ, Wattam-Bell J, Wilkinson AR, Atkinson J
Neuroreport 2007 Dec 3;18(18):1975-9. doi: 10.1097/WNR.0b013e3282f228c8. PMID: 18007197
Tenke CE, Kayser J
Clin Neurophysiol 2001 Mar;112(3):545-50. doi: 10.1016/s1388-2457(00)00553-8. PMID: 11222978

Diagnosis

Majoulet A, Audo I, Goujard C, De Menthon M, Chaix F, Safar P, Labetoulle M, Rousseau A
Doc Ophthalmol 2022 Apr;144(2):147-152. Epub 2022 Jan 3 doi: 10.1007/s10633-021-09860-w. PMID: 34978660
Habek M, Adamec I, Barun B, Crnošija L, Gabelić T, Krbot Skorić M
Adv Exp Med Biol 2017;958:129-139. doi: 10.1007/978-3-319-47861-6_8. PMID: 28093711
Tay SA, Sanjay S
Indian J Ophthalmol 2012 Jul;60(4):330-2. doi: 10.4103/0301-4738.98724. PMID: 22824610Free PMC Article
Otto DA, Fox DA
Neurotoxicology 1993 Summer-Fall;14(2-3):191-207. PMID: 8247393
Andreassi JL, Juszczak NM
Ann N Y Acad Sci 1984;425:157-61. doi: 10.1111/j.1749-6632.1984.tb23526.x. PMID: 6588823

Therapy

Fisher AC, McCulloch DL, Borchert MS, Garcia-Filion P, Fink C, Eleuteri A, Simpson DM
Doc Ophthalmol 2015 Aug;131(1):25-34. Epub 2015 Mar 12 doi: 10.1007/s10633-015-9493-y. PMID: 25761929
Bijl S, de Bruin EA, Kenemans JL, Verbaten MN, Böcker KB
Alcohol Clin Exp Res 2005 Nov;29(11):2029-38. doi: 10.1097/01.alc.0000187163.52577.0d. PMID: 16340461
Eimer M, Mazza V
Psychophysiology 2005 May;42(3):328-42. doi: 10.1111/j.1469-8986.2005.00285.x. PMID: 15943687Free PMC Article
Koivisto M, Revonsuo A
Psychophysiology 2003 May;40(3):423-9. doi: 10.1111/1469-8986.00044. PMID: 12946115
Buchsbaum MS, Lee S, Haier R, Wu JC, Green M, Tang SW
Neuropsychobiology 1988;20(1):15-22. doi: 10.1159/000118467. PMID: 3068567

Prognosis

Steinhauser M, Andersen SK
Neuroimage 2019 Feb 1;186:83-92. Epub 2018 Oct 23 doi: 10.1016/j.neuroimage.2018.10.059. PMID: 30366075Free PMC Article
Kalfaoğlu Ç, Stafford T, Milne E
J Exp Psychol Hum Percept Perform 2018 Jan;44(1):69-88. Epub 2017 Apr 27 doi: 10.1037/xhp0000417. PMID: 28447844
Qu Z, Hillyard SA, Ding Y
Cereb Cortex 2017 Feb 1;27(2):1512-1523. doi: 10.1093/cercor/bhv342. PMID: 26759483
Tay SA, Sanjay S
Indian J Ophthalmol 2012 Jul;60(4):330-2. doi: 10.4103/0301-4738.98724. PMID: 22824610Free PMC Article
Alexander P, Wen Y, Baxter JM, Tint NL, Browning AC, Amoaku WM
Doc Ophthalmol 2012 Oct;125(2):169-78. Epub 2012 Jun 23 doi: 10.1007/s10633-012-9339-9. PMID: 22729668

Clinical prediction guides

Steinhauser M, Andersen SK
Neuroimage 2019 Feb 1;186:83-92. Epub 2018 Oct 23 doi: 10.1016/j.neuroimage.2018.10.059. PMID: 30366075Free PMC Article
Bergmann K, Schubert AL, Hagemann D, Schankin A
Psychol Res 2016 Jul;80(4):660-76. Epub 2015 May 9 doi: 10.1007/s00426-015-0669-6. PMID: 25957278
Tay SA, Sanjay S
Indian J Ophthalmol 2012 Jul;60(4):330-2. doi: 10.4103/0301-4738.98724. PMID: 22824610Free PMC Article
Eimer M, Kiss M, Holmes A
J Neuropsychol 2008 Mar;2(Pt 1):165-81. doi: 10.1348/174866407X245411. PMID: 19330049Free PMC Article
Otto DA, Fox DA
Neurotoxicology 1993 Summer-Fall;14(2-3):191-207. PMID: 8247393

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