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Visual fixation instability

MedGen UID:
1372887
Concept ID:
C4476760
Finding
Synonym: Instability of ocular fixation
 
HPO: HP:0025405

Definition

A deficit in the ability to fixate eye movements in order to stabilize images on the retina [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVisual fixation instability

Conditions with this feature

PEHO-like syndrome
MedGen UID:
337956
Concept ID:
C1850056
Disease or Syndrome
A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16.
Pontocerebellar hypoplasia type 9
MedGen UID:
862791
Concept ID:
C4014354
Disease or Syndrome
Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination (summary by Akizu et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).
Mitochondrial complex 4 deficiency, nuclear type 12
MedGen UID:
1745691
Concept ID:
C5436695
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see 256000), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by Lim et al., 2014). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
MedGen UID:
1780242
Concept ID:
C5543287
Disease or Syndrome
CIMDAG syndrome (CIMDAG) is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia (CDA) (summary by Rodger et al., 2020 and Seu et al., 2020).
Neurodevelopmental disorder with seizures and brain abnormalities
MedGen UID:
1794189
Concept ID:
C5561979
Disease or Syndrome
Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by Duncan et al., 2021).
Combined oxidative phosphorylation deficiency 58
MedGen UID:
1841277
Concept ID:
C5830641
Disease or Syndrome
Combined oxidative phosphorylation deficiency-58 (COXPD58) is an autosomal recessive disorder characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect (Van Haute et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Scaramuzzi M, Murray J, Otero-Millan J, Nucci P, Shaikh AG, Ghasia FF
Prog Brain Res 2019;249:235-248. Epub 2019 Jun 20 doi: 10.1016/bs.pbr.2019.04.024. PMID: 31325983Free PMC Article
Straube A, Bronstein A, Straumann D; European Federation of Neurologic Societies
Eur J Neurol 2012 Jan;19(1):6-14. Epub 2011 Sep 12 doi: 10.1111/j.1468-1331.2011.03503.x. PMID: 21906211
Tilikete C, Vighetto A
Curr Opin Neurol 2011 Feb;24(1):38-43. doi: 10.1097/WCO.0b013e328341e3b5. PMID: 21102332

Recent clinical studies

Etiology

Dunn MJ, Carter P, Self J, Lee H, Shawkat F
Sci Rep 2023 Dec 20;13(1):22812. doi: 10.1038/s41598-023-50367-y. PMID: 38129574Free PMC Article
Shin JW, Suk KS, Kim HS, Yang JH, Kwon JW, Lee HM, Moon SH, Lee BH, Park SJ, Park SR, Kim SK
Yonsei Med J 2022 Mar;63(3):265-271. doi: 10.3349/ymj.2022.63.3.265. PMID: 35184429Free PMC Article
Grzybowski A, Kanclerz P, Tuuminen R
Graefes Arch Clin Exp Ophthalmol 2020 Apr;258(4):805-813. Epub 2020 Jan 18 doi: 10.1007/s00417-020-04603-0. PMID: 31955239Free PMC Article
Mallery RM, Poolman P, Thurtell MJ, Full JM, Ledolter J, Kimbrough D, Frohman EM, Frohman TC, Kardon RH
Invest Ophthalmol Vis Sci 2018 Jan 1;59(1):196-201. doi: 10.1167/iovs.17-22391. PMID: 29340646
Jansen H, Jordan M, Frey S, Hölscher-Doht S, Meffert R, Heintel T
Clin Rehabil 2018 Mar;32(3):312-318. Epub 2017 Aug 14 doi: 10.1177/0269215517724192. PMID: 28805066

Diagnosis

Dunn MJ, Carter P, Self J, Lee H, Shawkat F
Sci Rep 2023 Dec 20;13(1):22812. doi: 10.1038/s41598-023-50367-y. PMID: 38129574Free PMC Article
Ghasia F, Wang J
J Neurol Sci 2022 Oct 15;441:120373. Epub 2022 Aug 3 doi: 10.1016/j.jns.2022.120373. PMID: 36007287
Fogagnolo P, Digiuni M, Montesano G, Rui C, Morales M, Rossetti L
Eur J Ophthalmol 2018 Sep;28(5):481-490. Epub 2018 Mar 22 doi: 10.1177/1120672118757667. PMID: 29564933
Jansen H, Jordan M, Frey S, Hölscher-Doht S, Meffert R, Heintel T
Clin Rehabil 2018 Mar;32(3):312-318. Epub 2017 Aug 14 doi: 10.1177/0269215517724192. PMID: 28805066
Tilikete C, Vighetto A
Curr Opin Neurol 2011 Feb;24(1):38-43. doi: 10.1097/WCO.0b013e328341e3b5. PMID: 21102332

Therapy

Giordano V, Pires RE, Labronici PJ, Vieira I, de Souza FS, Sassine TJ, Mendes AF Jr, Freitas A
Eur J Orthop Surg Traumatol 2023 Apr;33(3):571-580. Epub 2022 Sep 12 doi: 10.1007/s00590-022-03389-7. PMID: 36094673
Grzybowski A, Kanclerz P, Tuuminen R
Graefes Arch Clin Exp Ophthalmol 2020 Apr;258(4):805-813. Epub 2020 Jan 18 doi: 10.1007/s00417-020-04603-0. PMID: 31955239Free PMC Article
Jansen H, Jordan M, Frey S, Hölscher-Doht S, Meffert R, Heintel T
Clin Rehabil 2018 Mar;32(3):312-318. Epub 2017 Aug 14 doi: 10.1177/0269215517724192. PMID: 28805066
Zaryanov AV, Park DK, Khalil JG, Baker KC, Fischgrund JS
Neurosurg Focus 2014;37(1):E5. doi: 10.3171/2014.5.FOCUS1495. PMID: 24981904
Tusa RJ
Semin Ophthalmol 1999 Jun;14(2):65-73. doi: 10.3109/08820539909056066. PMID: 10758214

Prognosis

Dunn MJ, Carter P, Self J, Lee H, Shawkat F
Sci Rep 2023 Dec 20;13(1):22812. doi: 10.1038/s41598-023-50367-y. PMID: 38129574Free PMC Article
Ghasia F, Wang J
J Neurol Sci 2022 Oct 15;441:120373. Epub 2022 Aug 3 doi: 10.1016/j.jns.2022.120373. PMID: 36007287
Wang S, Tian T, Zou L, Wu S, Liu Y, Wen W, Liu H
Semin Ophthalmol 2021 Aug 18;36(5-6):360-365. Epub 2021 Mar 4 doi: 10.1080/08820538.2021.1890142. PMID: 33661718
Jansen H, Jordan M, Frey S, Hölscher-Doht S, Meffert R, Heintel T
Clin Rehabil 2018 Mar;32(3):312-318. Epub 2017 Aug 14 doi: 10.1177/0269215517724192. PMID: 28805066
Tusa RJ
Semin Ophthalmol 1999 Jun;14(2):65-73. doi: 10.3109/08820539909056066. PMID: 10758214

Clinical prediction guides

Ghasia F, Wang J
J Neurol Sci 2022 Oct 15;441:120373. Epub 2022 Aug 3 doi: 10.1016/j.jns.2022.120373. PMID: 36007287
Shin JW, Suk KS, Kim HS, Yang JH, Kwon JW, Lee HM, Moon SH, Lee BH, Park SJ, Park SR, Kim SK
Yonsei Med J 2022 Mar;63(3):265-271. doi: 10.3349/ymj.2022.63.3.265. PMID: 35184429Free PMC Article
Wang S, Tian T, Zou L, Wu S, Liu Y, Wen W, Liu H
Semin Ophthalmol 2021 Aug 18;36(5-6):360-365. Epub 2021 Mar 4 doi: 10.1080/08820538.2021.1890142. PMID: 33661718
Mallery RM, Poolman P, Thurtell MJ, Full JM, Ledolter J, Kimbrough D, Frohman EM, Frohman TC, Kardon RH
Invest Ophthalmol Vis Sci 2018 Jan 1;59(1):196-201. doi: 10.1167/iovs.17-22391. PMID: 29340646
Jansen H, Jordan M, Frey S, Hölscher-Doht S, Meffert R, Heintel T
Clin Rehabil 2018 Mar;32(3):312-318. Epub 2017 Aug 14 doi: 10.1177/0269215517724192. PMID: 28805066

Recent systematic reviews

Maguire JA, Dhillon J, Sarna N, Keeter C, Scillia AJ, McCulloch PC, Kraeutler MJ
Arthroscopy 2024 Jun;40(6):1882-1893.e1. Epub 2023 Nov 29 doi: 10.1016/j.arthro.2023.11.020. PMID: 38040391
Thamrongskulsiri N, Limskul D, Tanpowpong T, Kuptniratsaikul S, Itthipanichpong T
Clin Orthop Surg 2023 Dec;15(6):1000-1012. Epub 2023 Oct 31 doi: 10.4055/cios23154. PMID: 38045573Free PMC Article
Migliorini F, Driessen A, Quack V, Schenker H, Tingart M, Eschweiler J
Arch Orthop Trauma Surg 2020 Sep;140(9):1201-1210. Epub 2020 Apr 21 doi: 10.1007/s00402-020-03420-8. PMID: 32318817Free PMC Article
Hamilton LC
J Hand Surg Asian Pac Vol 2018 Dec;23(4):441-449. doi: 10.1142/S2424835518300037. PMID: 30428786
Arirachakaran A, Boonard M, Piyapittayanun P, Kanchanatawan W, Chaijenkij K, Prommahachai A, Kongtharvonskul J
J Orthop Traumatol 2017 Dec;18(4):293-304. Epub 2017 Feb 25 doi: 10.1007/s10195-017-0451-1. PMID: 28236179Free PMC Article

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