CFEOM

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles

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.

genetic conditions

References

Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero K, Engle EC.Neurological features of congenital fibrosis of the extraocular muscles type 2with mutations in PHOX2A. Brain. 2006 Sep;129(Pt 9):2363-74.
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, ChanWM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr,Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causespolymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet. 2012 Dec15;21(26):5484-99. doi: 10.1093/hmg/dds393.
Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence forwidespread orbital dysinnervation in congenital fibrosis of extraocular musclesdue to mutations in KIF21A. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):530-9.
Heidary G, Engle EC, Hunter DG. Congenital fibrosis of the extraocularmuscles. Semin Ophthalmol. 2008 Jan-Feb;23(1):3-8. doi:10.1080/08820530701745181. Review.
Lu S, Zhao C, Zhao K, Li N, Larsson C. Novel and recurrent KIF21A mutations incongenital fibrosis of the extraocular muscles type 1 and 3. Arch Ophthalmol.2008 Mar;126(3):388-94. doi: 10.1001/archopht.126.3.388.
Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, MullaneyPB, Bosley TM, Engle EC. Homozygous mutations in ARIX(PHOX2A) result incongenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001Nov;29(3):315-20.
Price JM, Boparai RS, Wasserman BN. Congenital fibrosis of the extraocularmuscles: review of recent literature. Curr Opin Ophthalmol. 2019Sep;30(5):314-318. doi: 10.1097/ICU.0000000000000592. Review.
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM,Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, PiehC, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H,Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F,Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D,Engle EC. Human TUBB3 mutations perturb microtubule dynamics, kinesininteractions, and axon guidance. Cell. 2010 Jan 8;140(1):74-87. doi:10.1016/j.cell.2009.12.011.
Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, GultekinSH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B. A new syndrome, congenitalextraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.J Med Genet. 2005 May;42(5):408-15. Erratum in: J Med Genet. 2005 Nov;42(11):862.
van der Vaart B, van Riel WE, Doodhi H, Kevenaar JT, Katrukha EA, Gumy L,Bouchet BP, Grigoriev I, Spangler SA, Yu KL, Wulf PS, Wu J, Lansbergen G, vanBattum EY, Pasterkamp RJ, Mimori-Kiyosue Y, Demmers J, Olieric N, Maly IV,Hoogenraad CC, Akhmanova A. CFEOM1-associated kinesin KIF21A is a corticalmicrotubule growth inhibitor. Dev Cell. 2013 Oct 28;27(2):145-160. doi:10.1016/j.devcel.2013.09.010.
Whitman M, Hunter DG, Engle EC. Congenital Fibrosis of the ExtraocularMuscles. 2004 Apr 27 [updated 2016 Jan 14]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1348/
Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T,Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N,Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B,Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, ZubcovAA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI,Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of thekinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).Nat Genet. 2003 Dec;35(4):318-21.
Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB,Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, RoggenkäemperP, Mackey DA, De Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, deBerardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF 3rd, Engle EC.Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004Jul;45(7):2218-23.

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