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Increased axial length of the globe

MedGen UID:
320525
Concept ID:
C1835117
Finding
Synonyms: Increased axial globe length; Increased axial length of globe
 
HPO: HP:0007800

Definition

Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased axial length of the globe

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.
Blepharoptosis-myopia-ectopia lentis syndrome
MedGen UID:
400006
Concept ID:
C1862259
Disease or Syndrome
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.
Colobomatous macrophthalmia-microcornea syndrome
MedGen UID:
400728
Concept ID:
C1865286
Disease or Syndrome
A rare genetic eye disease with characteristics of microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement or variable extent of coloboma among other features.
Myopia 23, autosomal recessive
MedGen UID:
815812
Concept ID:
C3809482
Disease or Syndrome
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of myopia, see 160700.
Myopia 27
MedGen UID:
1719756
Concept ID:
C5394215
Disease or Syndrome
Myopia-27 (MYP27) is characterized by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina (Ouyang et al., 2019).

Professional guidelines

PubMed

Li Y, Yip M, Ning Y, Chung J, Toh A, Leow C, Liu N, Ting D, Schmetterer L, Saw SM, Jonas JB, Chia A, Ang M
JAMA Ophthalmol 2024 Jan 1;142(1):15-23. doi: 10.1001/jamaophthalmol.2023.5467. PMID: 38019503Free PMC Article
Lanca C, Repka MX, Grzybowski A
Optom Vis Sci 2023 Jan 1;100(1):23-30. Epub 2022 Oct 19 doi: 10.1097/OPX.0000000000001947. PMID: 36705712
Klaver C, Polling JR; Erasmus Myopia Research Group
Ophthalmic Physiol Opt 2020 Mar;40(2):230-240. doi: 10.1111/opo.12676. PMID: 32202320

Recent clinical studies

Etiology

Lanca C, Repka MX, Grzybowski A
Optom Vis Sci 2023 Jan 1;100(1):23-30. Epub 2022 Oct 19 doi: 10.1097/OPX.0000000000001947. PMID: 36705712
Zhang X, Guo PY, Lin C, Li F, Nguyen A, Sakata R, Higashita R, Okamoto K, Yu M, Aihara M, Aung T, Lin S, Leung CK
Ophthalmology 2023 Jan;130(1):111-119. Epub 2022 Oct 27 doi: 10.1016/j.ophtha.2022.08.017. PMID: 36652194
Xiong R, Zhu Z, Jiang Y, Wang W, Zhang J, Chen Y, Bulloch G, Yuan Y, Zhang S, Xuan M, Zeng J, He M
Ophthalmology 2023 Mar;130(3):286-296. Epub 2022 Oct 11 doi: 10.1016/j.ophtha.2022.10.002. PMID: 36240954
Chamberlain P, Lazon de la Jara P, Arumugam B, Bullimore MA
Ophthalmic Physiol Opt 2021 May;41(3):523-531. Epub 2021 May 5 doi: 10.1111/opo.12812. PMID: 33951213Free PMC Article
Chia A, Lu QS, Tan D
Ophthalmology 2016 Feb;123(2):391-399. Epub 2015 Aug 11 doi: 10.1016/j.ophtha.2015.07.004. PMID: 26271839

Diagnosis

Chamberlain P, Lazon de la Jara P, Arumugam B, Bullimore MA
Ophthalmic Physiol Opt 2021 May;41(3):523-531. Epub 2021 May 5 doi: 10.1111/opo.12812. PMID: 33951213Free PMC Article
Liu Y, Wang L, Xu Y, Pang Z, Mu G
Acta Ophthalmol 2021 Nov;99(7):730-738. Epub 2021 Feb 7 doi: 10.1111/aos.14773. PMID: 33550704
Yam JC, Jiang Y, Tang SM, Law AKP, Chan JJ, Wong E, Ko ST, Young AL, Tham CC, Chen LJ, Pang CP
Ophthalmology 2019 Jan;126(1):113-124. Epub 2018 Jul 6 doi: 10.1016/j.ophtha.2018.05.029. PMID: 30514630
Ohno-Matsui K
Retina 2017 Jun;37(6):1043-1048. doi: 10.1097/IAE.0000000000001348. PMID: 27755375
Chia A, Lu QS, Tan D
Ophthalmology 2016 Feb;123(2):391-399. Epub 2015 Aug 11 doi: 10.1016/j.ophtha.2015.07.004. PMID: 26271839

Therapy

Xiong R, Zhu Z, Jiang Y, Wang W, Zhang J, Chen Y, Bulloch G, Yuan Y, Zhang S, Xuan M, Zeng J, He M
Ophthalmology 2023 Mar;130(3):286-296. Epub 2022 Oct 11 doi: 10.1016/j.ophtha.2022.10.002. PMID: 36240954
Shinojima A, Negishi K, Tsubota K, Kurihara T
Front Public Health 2022;10:897600. Epub 2022 May 10 doi: 10.3389/fpubh.2022.897600. PMID: 35619815Free PMC Article
Bao J, Huang Y, Li X, Yang A, Zhou F, Wu J, Wang C, Li Y, Lim EW, Spiegel DP, Drobe B, Chen H
JAMA Ophthalmol 2022 May 1;140(5):472-478. doi: 10.1001/jamaophthalmol.2022.0401. PMID: 35357402Free PMC Article
Ha A, Kim SJ, Shim SR, Kim YK, Jung JH
Ophthalmology 2022 Mar;129(3):322-333. Epub 2021 Oct 22 doi: 10.1016/j.ophtha.2021.10.016. PMID: 34688698
Bao J, Yang A, Huang Y, Li X, Pan Y, Ding C, Lim EW, Zheng J, Spiegel DP, Drobe B, Lu F, Chen H
Br J Ophthalmol 2022 Aug;106(8):1171-1176. Epub 2021 Apr 2 doi: 10.1136/bjophthalmol-2020-318367. PMID: 33811039Free PMC Article

Prognosis

Xiong R, Zhu Z, Jiang Y, Wang W, Zhang J, Chen Y, Bulloch G, Yuan Y, Zhang S, Xuan M, Zeng J, He M
Ophthalmology 2023 Mar;130(3):286-296. Epub 2022 Oct 11 doi: 10.1016/j.ophtha.2022.10.002. PMID: 36240954
Chamberlain P, Lazon de la Jara P, Arumugam B, Bullimore MA
Ophthalmic Physiol Opt 2021 May;41(3):523-531. Epub 2021 May 5 doi: 10.1111/opo.12812. PMID: 33951213Free PMC Article
Liu Y, Wang L, Xu Y, Pang Z, Mu G
Acta Ophthalmol 2021 Nov;99(7):730-738. Epub 2021 Feb 7 doi: 10.1111/aos.14773. PMID: 33550704
Qureshi MH, Steel DHW
Eye (Lond) 2020 Apr;34(4):616-631. Epub 2019 Oct 1 doi: 10.1038/s41433-019-0575-z. PMID: 31576027Free PMC Article
Tideman JWL, Polling JR, Vingerling JR, Jaddoe VWV, Williams C, Guggenheim JA, Klaver CCW
Acta Ophthalmol 2018 May;96(3):301-309. Epub 2017 Dec 19 doi: 10.1111/aos.13603. PMID: 29265742Free PMC Article

Clinical prediction guides

Wang B, Watt K, Chen Z, Kang P
Clin Exp Optom 2023 Nov;106(8):815-824. Epub 2023 May 16 doi: 10.1080/08164622.2023.2202306. PMID: 37194117
Xiong R, Zhu Z, Jiang Y, Wang W, Zhang J, Chen Y, Bulloch G, Yuan Y, Zhang S, Xuan M, Zeng J, He M
Ophthalmology 2023 Mar;130(3):286-296. Epub 2022 Oct 11 doi: 10.1016/j.ophtha.2022.10.002. PMID: 36240954
Chamberlain P, Lazon de la Jara P, Arumugam B, Bullimore MA
Ophthalmic Physiol Opt 2021 May;41(3):523-531. Epub 2021 May 5 doi: 10.1111/opo.12812. PMID: 33951213Free PMC Article
Liu Y, Wang L, Xu Y, Pang Z, Mu G
Acta Ophthalmol 2021 Nov;99(7):730-738. Epub 2021 Feb 7 doi: 10.1111/aos.14773. PMID: 33550704
Tideman JWL, Polling JR, Vingerling JR, Jaddoe VWV, Williams C, Guggenheim JA, Klaver CCW
Acta Ophthalmol 2018 May;96(3):301-309. Epub 2017 Dec 19 doi: 10.1111/aos.13603. PMID: 29265742Free PMC Article

Recent systematic reviews

Zhang G, Jiang J, Qu C
Eye (Lond) 2023 Nov;37(16):3461-3469. Epub 2023 Apr 27 doi: 10.1038/s41433-023-02534-8. PMID: 37106147Free PMC Article
Lawrenson JG, Shah R, Huntjens B, Downie LE, Virgili G, Dhakal R, Verkicharla PK, Li D, Mavi S, Kernohan A, Li T, Walline JJ
Cochrane Database Syst Rev 2023 Feb 16;2(2):CD014758. doi: 10.1002/14651858.CD014758.pub2. PMID: 36809645Free PMC Article
Foreman J, Salim AT, Praveen A, Fonseka D, Ting DSW, Guang He M, Bourne RRA, Crowston J, Wong TY, Dirani M
Lancet Digit Health 2021 Dec;3(12):e806-e818. Epub 2021 Oct 5 doi: 10.1016/S2589-7500(21)00135-7. PMID: 34625399
Walline JJ, Lindsley KB, Vedula SS, Cotter SA, Mutti DO, Ng SM, Twelker JD
Cochrane Database Syst Rev 2020 Jan 13;1(1):CD004916. doi: 10.1002/14651858.CD004916.pub4. PMID: 31930781Free PMC Article
Wang X, Tang L, Gao L, Yang Y, Cao D, Li Y
Diabetes Res Clin Pract 2016 Jan;111:1-9. Epub 2015 Oct 23 doi: 10.1016/j.diabres.2015.10.020. PMID: 26531140

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