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Hypertropia

MedGen UID:
43790
Concept ID:
C0020575
Disease or Syndrome
Synonym: Hypertropias
SNOMED CT: Hypertropia (40608009)
 
HPO: HP:0025586
Monarch Initiative: MONDO:0004893

Definition

A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. [from HPO]

Term Hierarchy

Conditions with this feature

Marfan syndrome
MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
MedGen UID:
347880
Concept ID:
C1859432
Disease or Syndrome
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
Fibrosis of extraocular muscles, congenital, 2
MedGen UID:
356119
Concept ID:
C1865915
Disease or Syndrome
Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) (Wang et al., 1998, Nakano et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 (135700).
Coloboma, ocular, autosomal recessive
MedGen UID:
860411
Concept ID:
C4011974
Disease or Syndrome
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). For a discussion of genetic heterogeneity of ocular coloboma, see 120200.
Neurodevelopmental disorder with spasticity and poor growth
MedGen UID:
1648309
Concept ID:
C4748081
Disease or Syndrome

Professional guidelines

PubMed

Anilkumar SE, Narendran K
Indian J Ophthalmol 2022 Feb;70(2):609-612. doi: 10.4103/ijo.IJO_939_21. PMID: 35086246Free PMC Article
Flanders M, Hastings M
J Pediatr Ophthalmol Strabismus 1997 Nov-Dec;34(6):333-40. doi: 10.3928/0191-3913-19971101-04. PMID: 9430059
Wallace DK, von Noorden GK
Am J Ophthalmol 1994 Jul 15;118(1):63-9. doi: 10.1016/s0002-9394(14)72843-0. PMID: 8023877

Recent clinical studies

Etiology

Demer JL, Clark RA
Am J Ophthalmol 2022 Oct;242:197-208. Epub 2022 May 23 doi: 10.1016/j.ajo.2022.05.017. PMID: 35618024Free PMC Article
Demer JL
J Neuroophthalmol 2022 Mar 1;42(1):e240-e247. Epub 2021 Oct 8 doi: 10.1097/WNO.0000000000001301. PMID: 34670252Free PMC Article
Fu L, Zhu B, Yan J
BMC Ophthalmol 2021 Dec 7;21(1):422. doi: 10.1186/s12886-021-02121-z. PMID: 34876092Free PMC Article
Shah SM, Martinez-Thompson JM, Diehl NN, Mohney BG
J AAPOS 2018 Dec;22(6):438-440. Epub 2018 Oct 12 doi: 10.1016/j.jaapos.2018.07.348. PMID: 30321668Free PMC Article
Wang KJ, Chang QL, Man FY, Ding J, Wang JH, Xian JF, Jiao YH
J Pediatr Ophthalmol Strabismus 2018 Nov 19;55(6):363-368. Epub 2018 Jul 27 doi: 10.3928/01913913-20180620-02. PMID: 30074609

Diagnosis

Demer JL, Clark RA
Am J Ophthalmol 2022 Oct;242:197-208. Epub 2022 May 23 doi: 10.1016/j.ajo.2022.05.017. PMID: 35618024Free PMC Article
Goseki T
Jpn J Ophthalmol 2021 Jul;65(4):448-453. Epub 2021 May 20 doi: 10.1007/s10384-021-00839-3. PMID: 34014448
Shah SM, Martinez-Thompson JM, Diehl NN, Mohney BG
J AAPOS 2018 Dec;22(6):438-440. Epub 2018 Oct 12 doi: 10.1016/j.jaapos.2018.07.348. PMID: 30321668Free PMC Article
Miller AM
Am Orthopt J 2015;65:21-5. doi: 10.3368/aoj.65.1.21. PMID: 26564921
Goldstein JH
J Pediatr Ophthalmol Strabismus 1997 Mar-Apr;34(2):118-20. doi: 10.3928/0191-3913-19970301-13. PMID: 9083959

Therapy

Heidary G, Aakalu VK, Binenbaum G, Chang MY, Morrison DG, VanderVeen DK, Lambert SR, Trivedi RH, Galvin JA, Pineles SL
Ophthalmology 2022 Jan;129(1):100-109. Epub 2021 Aug 24 doi: 10.1016/j.ophtha.2021.07.026. PMID: 34446304Free PMC Article
Oke I, Elhusseiny AM, Shah AS, Hunter DG
Am J Ophthalmol 2022 Mar;235:32-37. Epub 2021 Jul 17 doi: 10.1016/j.ajo.2021.07.003. PMID: 34283987
Douglas VP, Douglas KAA, Reinshagen KL, Chwalisz BK
Radiology 2021 Aug;300(2):484-488. doi: 10.1148/radiol.2021201715. PMID: 34310228
Robbins L, Goseki T, Law SK, Nouri-Mahdavi K, Caprioli J, Coleman AL, Giaconi JA, Demer JL, Velez FG, Pineles SL
Am J Ophthalmol 2021 Feb;222:1-5. Epub 2020 Aug 17 doi: 10.1016/j.ajo.2020.08.019. PMID: 32818449
Chang MY, Coleman AL, Tseng VL, Demer JL
Cochrane Database Syst Rev 2017 Nov 27;11(11):CD012447. doi: 10.1002/14651858.CD012447.pub2. PMID: 29178265Free PMC Article

Prognosis

Robbins L, Goseki T, Law SK, Nouri-Mahdavi K, Caprioli J, Coleman AL, Giaconi JA, Demer JL, Velez FG, Pineles SL
Am J Ophthalmol 2021 Feb;222:1-5. Epub 2020 Aug 17 doi: 10.1016/j.ajo.2020.08.019. PMID: 32818449
Shah SM, Martinez-Thompson JM, Diehl NN, Mohney BG
J AAPOS 2018 Dec;22(6):438-440. Epub 2018 Oct 12 doi: 10.1016/j.jaapos.2018.07.348. PMID: 30321668Free PMC Article
Wang KJ, Chang QL, Man FY, Ding J, Wang JH, Xian JF, Jiao YH
J Pediatr Ophthalmol Strabismus 2018 Nov 19;55(6):363-368. Epub 2018 Jul 27 doi: 10.3928/01913913-20180620-02. PMID: 30074609
Ivanir Y, Trobe JD
J Neuroophthalmol 2017 Dec;37(4):365-368. doi: 10.1097/WNO.0000000000000460. PMID: 27787462
Lee JJ, Chun KI, Baek SH, Kim US
Korean J Ophthalmol 2013 Feb;27(1):39-43. Epub 2013 Jan 9 doi: 10.3341/kjo.2013.27.1.39. PMID: 23372378Free PMC Article

Clinical prediction guides

Bhate M, Adewara B, Bothra N
Indian J Ophthalmol 2023 Mar;71(3):973-976. doi: 10.4103/ijo.IJO_1929_22. PMID: 36872720Free PMC Article
Oke I, Elhusseiny AM, Shah AS, Hunter DG
Am J Ophthalmol 2022 Mar;235:32-37. Epub 2021 Jul 17 doi: 10.1016/j.ajo.2021.07.003. PMID: 34283987
Gazulla J, Orduna-Hospital E, Benavente I, Rodríguez-Valle A, Osorio-Caicedo P, Alvarez-de Andrés S, García-González E, Fraile-Rodrigo J, Fernández-Tirado FJ, Berciano J
J Neurol 2020 Aug;267(8):2288-2295. Epub 2020 Apr 20 doi: 10.1007/s00415-020-09840-1. PMID: 32314013
Wang KJ, Chang QL, Man FY, Ding J, Wang JH, Xian JF, Jiao YH
J Pediatr Ophthalmol Strabismus 2018 Nov 19;55(6):363-368. Epub 2018 Jul 27 doi: 10.3928/01913913-20180620-02. PMID: 30074609
Chang MY, Coleman AL, Tseng VL, Demer JL
Cochrane Database Syst Rev 2017 Nov 27;11(11):CD012447. doi: 10.1002/14651858.CD012447.pub2. PMID: 29178265Free PMC Article

Recent systematic reviews

Chang MY, Coleman AL, Tseng VL, Demer JL
Cochrane Database Syst Rev 2017 Nov 27;11(11):CD012447. doi: 10.1002/14651858.CD012447.pub2. PMID: 29178265Free PMC Article

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