U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Total ophthalmoplegia

MedGen UID:
57604
Concept ID:
C0155338
Disease or Syndrome
Synonyms: Complete ophthalmoplegia; Global paralysis of gaze; Total internal and external ophthalmoplegia
SNOMED CT: Total ophthalmoplegia (78097002)
 
HPO: HP:0007824

Definition

Paralysis of both the extrinsic and intrinsic ocular muscles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTotal ophthalmoplegia

Conditions with this feature

Ophthalmoplegia, familial total, with iris transillumination
MedGen UID:
371665
Concept ID:
C1833836
Disease or Syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 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. 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 the POLG-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 and 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 of POLG-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+").
RHYNS syndrome
MedGen UID:
356371
Concept ID:
C1865794
Disease or Syndrome
RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (Di Rocco et al., 1997).

Professional guidelines

PubMed

Tankova T, Cherninkova S, Koev D
Int J Clin Pract 2005 Jun;59(6):645-50. doi: 10.1111/j.1742-1241.2005.00452.x. PMID: 15924591

Recent clinical studies

Etiology

Tandon M, Sheemar A, Bhatnagar K, Meena S, Shakrawal J
Asia Pac J Ophthalmol (Phila) 2023 Jan-Feb 01;12(1):16-20. Epub 2023 Jan 2 doi: 10.1097/APO.0000000000000593. PMID: 36706330
Nagarkar NM, Sahu V, Arora R, Pathak M, Shambharkar MS, Naveen P
Int Ophthalmol 2023 Jul;43(7):2363-2370. Epub 2023 Jan 16 doi: 10.1007/s10792-023-02634-0. PMID: 36645635Free PMC Article
Prasad S, Gaur A, Mehta A, Kaushal N
BMC Ophthalmol 2022 Oct 1;22(1):389. doi: 10.1186/s12886-022-02611-8. PMID: 36183076Free PMC Article
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC
JAMA Ophthalmol 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392. PMID: 24091937Free PMC Article
Chowdhury RK, Gupta N, Padhy KC
Indian J Ophthalmol 2009 Sep-Oct;57(5):389-91. doi: 10.4103/0301-4738.55072. PMID: 19700880Free PMC Article

Diagnosis

Tsutsumi S, Oishi H, Nonaka S, Okura H, Suzuki T, Yasumoto Y, Ishii H
World Neurosurg 2019 Feb;122:287-292. Epub 2018 Nov 14 doi: 10.1016/j.wneu.2018.11.003. PMID: 30447460
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC
JAMA Ophthalmol 2013 Dec;131(12):1532-40. doi: 10.1001/jamaophthalmol.2013.4392. PMID: 24091937Free PMC Article
Borruat FX, Bogousslavsky J, Uffer S, Klainguti G, Schatz NJ
Ophthalmology 1993 Apr;100(4):562-8. doi: 10.1016/s0161-6420(93)31606-4. PMID: 8479716
Ochiai H, Iseda T, Miyahara S, Goya T, Wakisaka S
Neurol Med Chir (Tokyo) 1993 Jun;33(6):373-6. doi: 10.2176/nmc.33.373. PMID: 7689184
Bray WH, Giangiacomo J, Ide CH
Surv Ophthalmol 1987 Sep-Oct;32(2):136-40. doi: 10.1016/0039-6257(87)90106-8. PMID: 3686340

Therapy

Williams JV, Williams LR, Colbert SD, Revington PJ
Oral Maxillofac Surg 2011 Mar;15(1):67-70. Epub 2010 Jun 25 doi: 10.1007/s10006-010-0238-5. PMID: 20577772
Fraunfelder FW, Richards AB
Ophthalmology 2008 Dec;115(12):2282-5. Epub 2008 Oct 18 doi: 10.1016/j.ophtha.2008.08.006. PMID: 18930555
Silva MT, Curi AL
Arq Neuropsiquiatr 2004 Sep;62(3B):873-4. Epub 2004 Oct 5 doi: 10.1590/s0004-282x2004000500025. PMID: 15476086
Ochiai H, Iseda T, Miyahara S, Goya T, Wakisaka S
Neurol Med Chir (Tokyo) 1993 Jun;33(6):373-6. doi: 10.2176/nmc.33.373. PMID: 7689184
Bray WH, Giangiacomo J, Ide CH
Surv Ophthalmol 1987 Sep-Oct;32(2):136-40. doi: 10.1016/0039-6257(87)90106-8. PMID: 3686340

Prognosis

Kamath GM, Jeganathan S, Salim S, Antony RM, Kamath AR, Hiran H
Indian J Ophthalmol 2023 Jul;71(7):2904-2906. doi: 10.4103/IJO.IJO_3123_22. PMID: 37417144Free PMC Article
Chowdhury RK, Gupta N, Padhy KC
Indian J Ophthalmol 2009 Sep-Oct;57(5):389-91. doi: 10.4103/0301-4738.55072. PMID: 19700880Free PMC Article
Iihara K, Makita Y, Nabeshima S, Tei T, Keyaki A, Nioka H
Neurol Med Chir (Tokyo) 1990 Aug;30(8):618-23. doi: 10.2176/nmc.30.618. PMID: 1703641
Lingua RW
Am J Ophthalmol 1985 Aug 15;100(2):305-7. doi: 10.1016/0002-9394(85)90797-4. PMID: 4025471
Yumoto E, Kitani S, Okamura H, Yanagihara N
Laryngoscope 1985 Feb;95(2):190-2. doi: 10.1288/00005537-198502000-00013. PMID: 3968952

Clinical prediction guides

Williams JV, Williams LR, Colbert SD, Revington PJ
Oral Maxillofac Surg 2011 Mar;15(1):67-70. Epub 2010 Jun 25 doi: 10.1007/s10006-010-0238-5. PMID: 20577772
Besada E, Hunter M, Bittner B
Optometry 2007 Jul;78(7):339-43. doi: 10.1016/j.optm.2007.04.086. PMID: 17601571
Lax T, Ng JD
Ophthalmic Plast Reconstr Surg 2006 Sep-Oct;22(5):389-91. doi: 10.1097/01.iop.0000237098.56454.89. PMID: 16985427
Tankova T, Cherninkova S, Koev D
Int J Clin Pract 2005 Jun;59(6):645-50. doi: 10.1111/j.1742-1241.2005.00452.x. PMID: 15924591

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...