Format

Send to:

Choose Destination

Congenital fibrosis of the extraocular muscles

MedGen UID:
431608
Concept ID:
CN043677
Disease or Syndrome
 
Related genes: KIF21A, TUBB3, PHOX2A

Disease characteristics

Excerpted from the GeneReview: Congenital Fibrosis of the Extraocular Muscles
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least eight genetically defined strabismus syndromes (CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria) characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, Kallmann syndrome, facial weakness, and vocal cord paralysis; and/or may develop a progressive sensorimotor axonal polyneuropathy. Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. Those with CFEOM3 with polymicrogyria also have microcephaly and intellectual disability. [from GeneReviews]
Authors:
Mary Whitman  |  David G Hunter  |  Elizabeth C Engle   view full author information

Additional description

From GHR
Congenital fibrosis of the extraocular muscles (CFEOM) is a disorder of the nervous system that affects use of the muscles that surround the eyes (extraocular muscles). These muscles control eye movement and the direction of the eyes (for example, looking straight ahead). CFEOM impairs control of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision.Researchers have identified several forms of CFEOM, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome (sometimes called CFEOM4). The specific problems with eye movement vary among the types, and some types are associated with additional signs and symptoms. People with CFEOM1 and CFEOM2 have only the eye problems described above. In CFEOM1, the eyes typically point downward, whereas in CFEOM2, the eyes usually turn outward.CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal head size (microcephaly); muscle weakness in the face; nonfunctioning vocal cords; and a set of symptoms called Kallmann syndrome, which features delayed or absent puberty and an impaired sense of smell. Some affected individuals develop pain, weakness, or a decreased ability to feel sensations in the limbs (peripheral neuropathy), which can begin in childhood or adulthood.Brain abnormalities can also occur in people with CFEOM3. Some have abnormal development of the white matter, which is brain tissue containing nerve cell fibers (axons) that transmit nerve impulses. A particular form of CFEOM3, known as CFEOM3 with polymicrogyria, is characterized by abnormal development of the brain, in which the folds and ridges on the surface of the brain are smaller and more numerous than usual.Tukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement.  https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles

Recent clinical studies

Etiology

Kim N, Yang HK, Kim JH, Hwang JM
Curr Eye Res 2018 Dec;43(12):1471-1476. Epub 2018 Aug 6 doi: 10.1080/02713683.2018.1506037. PMID: 30081646
Chen H, Liu T, Zeng Z, Wang Y, Lin Y, Cheng L, Pan Q, Gu F, Song Z, Zhang Z
Medicine (Baltimore) 2017 Sep;96(38):e8068. doi: 10.1097/MD.0000000000008068. PMID: 28930843Free PMC Article
Chen J, Ye Q, Deng D, Yan J, Lin H, Shen T, Lin Y
Mol Med Rep 2016 Oct;14(4):3145-51. Epub 2016 Aug 11 doi: 10.3892/mmr.2016.5624. PMID: 27513105Free PMC Article
Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K, Bosley T
Ophthalmic Genet 2016 Jun;37(2):130-6. Epub 2014 Jun 18 doi: 10.3109/13816810.2014.926942. PMID: 24940936Free PMC Article
Sener EC, Taylan Sekeroglu H, Ural O, Oztürk BT, Sanaç AS
Ophthalmic Genet 2014 Dec;35(4):208-25. Epub 2014 Oct 27 doi: 10.3109/13816810.2014.973044. PMID: 25347047

Diagnosis

Kim N, Yang HK, Kim JH, Hwang JM
Curr Eye Res 2018 Dec;43(12):1471-1476. Epub 2018 Aug 6 doi: 10.1080/02713683.2018.1506037. PMID: 30081646
Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K, Bosley T
Ophthalmic Genet 2016 Jun;37(2):130-6. Epub 2014 Jun 18 doi: 10.3109/13816810.2014.926942. PMID: 24940936Free PMC Article
Miao W, Man F, Wu S, Lv B, Wang Z, Xian J, Sabel BA, He H, Jiao Y
PLoS One 2015;10(7):e0133473. Epub 2015 Jul 17 doi: 10.1371/journal.pone.0133473. PMID: 26186732Free PMC Article
Gesite-de Leon B, Demer JL
J AAPOS 2014 Jun;18(3):299-301. Epub 2014 Apr 18 doi: 10.1016/j.jaapos.2014.02.006. PMID: 24751811Free PMC Article
Tawfik HA, Rashad MA
Middle East Afr J Ophthalmol 2012 Oct;19(4):416-8. doi: 10.4103/0974-9233.102764. PMID: 23248547Free PMC Article

Therapy

Pujari A, Sharma P, Basheer S, Obedulla H, Bhaskaran K, Phuljhele S
Indian J Ophthalmol 2019 Jul;67(7):1229-1230. doi: 10.4103/ijo.IJO_1542_18. PMID: 31238477Free PMC Article
Rajamani M, Nagasubramanian V, Ayyavoo A, Raghupathy P, Dandapani R
Strabismus 2017 Mar;25(1):39-42. Epub 2017 Jan 31 doi: 10.1080/09273972.2016.1277768. PMID: 28140732
Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, Engle EC
Neuron 2014 Apr 16;82(2):334-49. Epub 2014 Mar 20 doi: 10.1016/j.neuron.2014.02.038. PMID: 24656932Free PMC Article
Murillo-Correa CE, Jaimes M, Martin F, Vargas-Ortega J, Nava-Castañeda A
Strabismus 2011 Mar;19(1):12-6. doi: 10.3109/09273972.2010.545467. PMID: 21314337
Gottlob I, Jain S, Engle EC
Am J Ophthalmol 2002 Sep;134(3):459-60. doi: 10.1016/s0002-9394(02)01540-4. PMID: 12208268

Prognosis

Kim N, Yang HK, Kim JH, Hwang JM
Curr Eye Res 2018 Dec;43(12):1471-1476. Epub 2018 Aug 6 doi: 10.1080/02713683.2018.1506037. PMID: 30081646
Ali Z, Xing C, Anwar D, Itani K, Weakley D, Gong X, Pascual JM, Mootha VV
Mol Vis 2014;20:368-75. Epub 2014 Mar 28 PMID: 24715754Free PMC Article
Merino P, Gómez de Liaño P, Fukumitsu H, Franco G, Ruiz Y
Strabismus 2013 Sep;21(3):183-9. doi: 10.3109/09273972.2013.811605. PMID: 23978146
Lu S, Zhao C, Zhao K, Li N, Larsson C
Arch Ophthalmol 2008 Mar;126(3):388-94. doi: 10.1001/archopht.126.3.388. PMID: 18332320
Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC
Nat Genet 2001 Nov;29(3):315-20. doi: 10.1038/ng744. PMID: 11600883

Clinical prediction guides

Chen J, Ye Q, Deng D, Yan J, Lin H, Shen T, Lin Y
Mol Med Rep 2016 Oct;14(4):3145-51. Epub 2016 Aug 11 doi: 10.3892/mmr.2016.5624. PMID: 27513105Free PMC Article
Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K, Bosley T
Ophthalmic Genet 2016 Jun;37(2):130-6. Epub 2014 Jun 18 doi: 10.3109/13816810.2014.926942. PMID: 24940936Free PMC Article
Desai J, Velo MP, Yamada K, Overman LM, Engle EC
Gene Expr Patterns 2012 May-Jun;12(5-6):180-8. Epub 2012 Mar 23 doi: 10.1016/j.gep.2012.03.003. PMID: 22465342Free PMC Article
Wang P, Li S, Xiao X, Guo X, Zhang Q
Int J Mol Med 2011 Dec;28(6):973-5. Epub 2011 Jul 26 doi: 10.3892/ijmm.2011.759. PMID: 21805025
Khan AO, Shinwari J, Omar A, Khalil D, Al-Anazi M, Al-Amri A, Al-Tassan NA
Ophthalmic Genet 2011 Sep;32(3):175-80. Epub 2011 Mar 31 doi: 10.3109/13816810.2011.567318. PMID: 21449832

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center