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Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma(MSPKA)

MedGen UID:
761238
Concept ID:
C3538951
Disease or Syndrome
Synonym: MSPKA
 
Gene (location): LTBP2 (14q24.3)
 
Monarch Initiative: MONDO:0009633
OMIM®: 251750

Clinical features

From HPO
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
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.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
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.
Megalocornea
MedGen UID:
138008
Concept ID:
C0344530
Congenital Abnormality
Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983). Megalocornea sometimes occurs as part of the Marfan syndrome (154700). Genetic Heterogeneity of Megalocornea Autosomal recessive megalocornea has been reported (249300).
Deep anterior chamber
MedGen UID:
602219
Concept ID:
C0423280
Finding
Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.
Iridodonesis
MedGen UID:
451052
Concept ID:
C0423320
Disease or Syndrome
Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.
Microspherophakia
MedGen UID:
288328
Concept ID:
C1562061
Congenital Abnormality
Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).
Buphthalmos
MedGen UID:
1641795
Concept ID:
C4551507
Congenital Abnormality
Diffusely large eye (with megalocornea) associated with glaucoma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrospherophakia
    • CROGVMicrospherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

Professional guidelines

PubMed

Urbonavičiūtė D, Buteikienė D, Janulevičienė I
Medicina (Kaunas) 2022 Dec 18;58(12) doi: 10.3390/medicina58121870. PMID: 36557072Free PMC Article
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Filler L, Akhter M, Nimlos P
Semin Neurol 2019 Feb;39(1):20-26. Epub 2019 Feb 11 doi: 10.1055/s-0038-1677023. PMID: 30743289

Recent clinical studies

Etiology

Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Buffault J, Labbé A, Hamard P, Brignole-Baudouin F, Baudouin C
J Fr Ophtalmol 2020 Sep;43(7):e217-e230. Epub 2020 Jun 16 doi: 10.1016/j.jfo.2020.05.002. PMID: 32561029
Flores-Sánchez BC, Tatham AJ
Br J Hosp Med (Lond) 2019 Dec 2;80(12):C174-C179. doi: 10.12968/hmed.2019.80.12.C174. PMID: 31822188
Silva L, Najafi A, Suwan Y, Teekhasaenee C, Ritch R
Surv Ophthalmol 2018 Sep-Oct;63(5):665-676. Epub 2018 Jan 11 doi: 10.1016/j.survophthal.2018.01.001. PMID: 29331589
Okeke CO, Miller-Ellis E, Rojas M; Trabectome Study Group
Medicine (Baltimore) 2017 Jun;96(24):e7061. doi: 10.1097/MD.0000000000007061. PMID: 28614223Free PMC Article

Diagnosis

Gazzard G, Konstantakopoulou E, Garway-Heath D, Adeleke M, Vickerstaff V, Ambler G, Hunter R, Bunce C, Nathwani N, Barton K; LiGHT Trial Study Group
Ophthalmology 2023 Feb;130(2):139-151. Epub 2022 Sep 17 doi: 10.1016/j.ophtha.2022.09.009. PMID: 36122660
Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Kang JM, Tanna AP
Med Clin North Am 2021 May;105(3):493-510. Epub 2021 Apr 2 doi: 10.1016/j.mcna.2021.01.004. PMID: 33926643
Senthil S, Dada T, Das T, Kaushik S, Puthuran GV, Philip R, Rani PK, Rao H, Singla S, Vijaya L
Indian J Ophthalmol 2021 Mar;69(3):525-534. doi: 10.4103/ijo.IJO_1591_20. PMID: 33595466Free PMC Article
Flores-Sánchez BC, Tatham AJ
Br J Hosp Med (Lond) 2019 Dec 2;80(12):C174-C179. doi: 10.12968/hmed.2019.80.12.C174. PMID: 31822188

Therapy

Gazzard G, Konstantakopoulou E, Garway-Heath D, Adeleke M, Vickerstaff V, Ambler G, Hunter R, Bunce C, Nathwani N, Barton K; LiGHT Trial Study Group
Ophthalmology 2023 Feb;130(2):139-151. Epub 2022 Sep 17 doi: 10.1016/j.ophtha.2022.09.009. PMID: 36122660
Gedde SJ, Feuer WJ, Lim KS, Barton K, Goyal S, Ahmed II, Brandt JD; Primary Tube Versus Trabeculectomy Study Group
Ophthalmology 2022 Dec;129(12):1344-1356. Epub 2022 Jul 12 doi: 10.1016/j.ophtha.2022.07.003. PMID: 35835337Free PMC Article
Marta A, Vieira R, Figueiredo A, Reis R, Sampaio I, Beirão JM, Menéres MJ
Eye (Lond) 2022 Jan;36(1):111-118. Epub 2021 Feb 24 doi: 10.1038/s41433-021-01443-y. PMID: 33627759Free PMC Article
King AJ, Hudson J, Fernie G, Kernohan A, Azuara-Blanco A, Burr J, Homer T, Shabaninejad H, Sparrow JM, Garway-Heath D, Barton K, Norrie J, McDonald A, Vale L, MacLennan G; TAGS Study Group
BMJ 2021 May 12;373:n1014. doi: 10.1136/bmj.n1014. PMID: 33980505Free PMC Article
Asefa NG, Neustaeter A, Jansonius NM, Snieder H
BMJ Open 2018 Feb 28;8(2):e019049. doi: 10.1136/bmjopen-2017-019049. PMID: 29490960Free PMC Article

Prognosis

Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Selvan H, Lakra S, Yadav S, Pujari A
Eur J Ophthalmol 2022 Sep;32(5):NP64-NP66. Epub 2021 May 13 doi: 10.1177/11206721211016982. PMID: 33985360
Marta A, Vieira R, Figueiredo A, Reis R, Sampaio I, Beirão JM, Menéres MJ
Eye (Lond) 2022 Jan;36(1):111-118. Epub 2021 Feb 24 doi: 10.1038/s41433-021-01443-y. PMID: 33627759Free PMC Article
Okeke CO, Miller-Ellis E, Rojas M; Trabectome Study Group
Medicine (Baltimore) 2017 Jun;96(24):e7061. doi: 10.1097/MD.0000000000007061. PMID: 28614223Free PMC Article
Girgis NM, Frantz KA
Optometry 2007 Apr;78(4):167-75. doi: 10.1016/j.optm.2006.10.016. PMID: 17400138

Clinical prediction guides

Gazzard G, Konstantakopoulou E, Garway-Heath D, Adeleke M, Vickerstaff V, Ambler G, Hunter R, Bunce C, Nathwani N, Barton K; LiGHT Trial Study Group
Ophthalmology 2023 Feb;130(2):139-151. Epub 2022 Sep 17 doi: 10.1016/j.ophtha.2022.09.009. PMID: 36122660
Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Baker ND, Barnebey HS, Moster MR, Stiles MC, Vold SD, Khatana AK, Flowers BE, Grover DS, Strouthidis NG, Panarelli JF; INN005 Study Group
Ophthalmology 2021 Dec;128(12):1710-1721. Epub 2021 May 27 doi: 10.1016/j.ophtha.2021.05.023. PMID: 34051211
Gordon MO, Gao F, Huecker JB, Miller JP, Margolis M, Kass MA, Miglior S, Torri V; European Glaucoma Prevention Study and the Ocular Hypertension Treatment Study
JAMA Ophthalmol 2020 Jul 1;138(7):780-788. doi: 10.1001/jamaophthalmol.2020.1902. PMID: 32496526Free PMC Article
Giamberardino MA, Affaitati G, Costantini R, Guglielmetti M, Martelletti P
Intern Emerg Med 2020 Jan;15(1):109-117. Epub 2020 Jan 1 doi: 10.1007/s11739-019-02266-2. PMID: 31893348

Recent systematic reviews

Agyekum S, Chan PP, Zhang Y, Huo Z, Yip BHK, Ip P, Tham CC, Chen LJ, Zhang XJ, Pang CP, Yam JC
Front Public Health 2023;11:1093836. Epub 2023 Feb 27 doi: 10.3389/fpubh.2023.1093836. PMID: 36923029Free PMC Article
Woreta FA, Lindsley KB, Gharaibeh A, Ng SM, Scherer RW, Goldberg MF
Cochrane Database Syst Rev 2023 Mar 13;3(3):CD005431. doi: 10.1002/14651858.CD005431.pub5. PMID: 36912744Free PMC Article
Anshu A, Tan D, Chee SP, Mehta JS, Htoon HM
Cochrane Database Syst Rev 2017 Aug 24;8(8):CD011908. doi: 10.1002/14651858.CD011908.pub2. PMID: 28838031Free PMC Article
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article
Minckler DS, Vedula SS, Li TJ, Mathew MC, Ayyala RS, Francis BA
Cochrane Database Syst Rev 2006 Apr 19;(2):CD004918. doi: 10.1002/14651858.CD004918.pub2. PMID: 16625616Free PMC Article

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