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Blepharoptosis-myopia-ectopia lentis syndrome

MedGen UID:
400006
Concept ID:
C1862259
Disease or Syndrome
Synonyms: Blepharoptosis myopia ectopia lentis; BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS; Dominantly inherited blepharoptosis, high myopia, and ectopia lentis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007202
OMIM®: 110150
Orphanet: ORPHA1259

Definition

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. [from ORDO]

Clinical features

From HPO
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Congenital ptosis
MedGen UID:
78612
Concept ID:
C0266573
Congenital Abnormality
The drooping of the upper or lower eyelid that is present at the time of birth.
Increased axial length of the globe
MedGen UID:
320525
Concept ID:
C1835117
Finding
Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlepharoptosis-myopia-ectopia lentis syndrome
Follow this link to review classifications for Blepharoptosis-myopia-ectopia lentis syndrome in Orphanet.

Professional guidelines

PubMed

Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC
Clin Genet 2019 Apr;95(4):462-478. Epub 2019 Feb 18 doi: 10.1111/cge.13506. PMID: 30677142
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC
Nat Rev Genet 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. PMID: 29995837Free PMC Article
Chandra A, Charteris D
Eye (Lond) 2014 Feb;28(2):162-8. Epub 2014 Jan 10 doi: 10.1038/eye.2013.274. PMID: 24406422Free PMC Article

Recent clinical studies

Etiology

Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE
Nat Rev Dis Primers 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. PMID: 34475413Free PMC Article
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC
Clin Genet 2019 Apr;95(4):462-478. Epub 2019 Feb 18 doi: 10.1111/cge.13506. PMID: 30677142
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC
Nat Rev Genet 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. PMID: 29995837Free PMC Article
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

Diagnosis

Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE
Nat Rev Dis Primers 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. PMID: 34475413Free PMC Article
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC
Clin Genet 2019 Apr;95(4):462-478. Epub 2019 Feb 18 doi: 10.1111/cge.13506. PMID: 30677142
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC
Nat Rev Genet 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. PMID: 29995837Free PMC Article
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

Therapy

Cao Q, Xiao B, Jin G, Lin J, Wang Y, Young CA, Lin J, Zhou Y, Zhang B, Cao M, Wu K, Zheng D
Mol Med Rep 2019 Jul;20(1):559-566. Epub 2019 May 23 doi: 10.3892/mmr.2019.10287. PMID: 31180551Free PMC Article
Zhang Y, Jin G, Young CA, Cao Q, Lin J, Lin J, Wang Y, Zheng D
Curr Eye Res 2018 Aug;43(8):972-976. Epub 2018 May 23 doi: 10.1080/02713683.2018.1470248. PMID: 29698085
Wu-Chen WY, Letson RD, Summers CG
J AAPOS 2005 Aug;9(4):353-7. doi: 10.1016/j.jaapos.2005.03.004. PMID: 16102486
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058
Nelson LB, Maumenee IH
Surv Ophthalmol 1982 Nov-Dec;27(3):143-60. doi: 10.1016/0039-6257(82)90069-8. PMID: 6984233

Prognosis

Kemezyte A, Gegieckiene R, Burnyte B
BMC Pediatr 2023 Oct 28;23(1):539. doi: 10.1186/s12887-023-04357-8. PMID: 37891508Free PMC Article
Ng JY, Zarook E, Nicholson L; Oculi-Cordis group, Khanji MY, Chahal CAA
Heart 2023 Oct 26;109(22):1670-1676. doi: 10.1136/heartjnl-2022-322081. PMID: 37507215Free PMC Article
Dogăroiu AC, Dogăroiu C, Tătaru CP
Rom J Ophthalmol 2022 Jan-Mar;66(1):2-7. doi: 10.22336/rjo.2022.2. PMID: 35531445Free PMC Article
Castellano JM, Silvay G, Castillo JG
Semin Cardiothorac Vasc Anesth 2014 Sep;18(3):260-71. Epub 2013 Dec 5 doi: 10.1177/1089253213513842. PMID: 24311526
Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC
Dev Med Child Neurol 2012 Oct;54(10):925-31. Epub 2012 Jun 19 doi: 10.1111/j.1469-8749.2012.04339.x. PMID: 22712893

Clinical prediction guides

Rasul A, Roos L, Groth K, Riise P, Bach-Holm D, Kessel L
J Cataract Refract Surg 2022 Dec 1;48(12):1394-1402. doi: 10.1097/j.jcrs.0000000000001008. PMID: 36449672
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL
Genet Med 2022 May;24(5):1045-1053. Epub 2022 Jan 17 doi: 10.1016/j.gim.2021.12.015. PMID: 35058154Free PMC Article
Chen ZX, Chen JH, Zhang M, Chen TH, Zheng JL, Deng M, Ji YH, Jiang YX
Ophthalmic Res 2021;64(5):811-819. Epub 2021 Jul 13 doi: 10.1159/000517384. PMID: 34034266
Guo D, Jin G, Zhou Y, Zhang X, Cao Q, Lian Z, Guo Y, Zheng D
Exp Eye Res 2021 Jun;207:108570. Epub 2021 Apr 16 doi: 10.1016/j.exer.2021.108570. PMID: 33844962
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

Recent systematic reviews

Mulder PA, Huisman SA, Hennekam RC, Oliver C, van Balkom ID, Piening S
Dev Med Child Neurol 2017 Apr;59(4):361-366. Epub 2016 Dec 18 doi: 10.1111/dmcn.13361. PMID: 27988966

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