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Colobomatous macrophthalmia-microcornea syndrome(MACOM)

MedGen UID:
400728
Concept ID:
C1865286
Disease or Syndrome
Synonym: Macrophthalmia, colobomatous, with microcornea
SNOMED CT: Colobomatous macrophthalmia with microcornea syndrome (1179296003); MACOM (macrophthalmia colobomatous with microcornea) syndrome (1179296003)
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:0011239
OMIM®: 602499
Orphanet: ORPHA468672

Definition

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. [from SNOMEDCT_US]

Clinical features

From HPO
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.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Coloboma of optic nerve
MedGen UID:
57832
Concept ID:
C0155299
Disease or Syndrome
A cleft of the optic nerve that extends inferiorly.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Raised intraocular pressure
MedGen UID:
68606
Concept ID:
C0234708
Finding
Intraocular pressure that is 2 standard deviations above the population mean.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Chorioretinal coloboma
MedGen UID:
66820
Concept ID:
C0240896
Congenital Abnormality
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Cornea plana
MedGen UID:
576329
Concept ID:
C0344529
Congenital Abnormality
Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.
Shallow anterior chamber
MedGen UID:
602215
Concept ID:
C0423276
Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
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.

Recent clinical studies

Etiology

DeYoung C, Guan B, Ullah E, Blain D, Hufnagel RB, Brooks BP
Ophthalmic Genet 2022 Aug;43(4):513-517. Epub 2022 Mar 23 doi: 10.1080/13816810.2022.2028299. PMID: 35318877
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium
Br J Ophthalmol 2021 Jul;105(7):897-903. Epub 2020 Aug 22 doi: 10.1136/bjophthalmol-2020-316910. PMID: 32829301
Martin GC, Robert MP, Challe G, Trinh NTH, Attié-Bitach T, Brémond-Gignac D, Bodaghi B, Abadie V
J Pediatr Ophthalmol Strabismus 2020 Mar 1;57(2):120-128. doi: 10.3928/01913913-20200207-02. PMID: 32203596
Seung HK, Kim HK, Nam WH
Korean J Ophthalmol 2009 Dec;23(4):312-4. Epub 2009 Dec 4 doi: 10.3341/kjo.2009.23.4.312. PMID: 20046696Free PMC Article
Kroes HY, Nievelstein RJ, Barth PG, Nikkels PG, Bergmann C, Gooskens RH, Visser G, van Amstel HK, Beemer FA
Am J Med Genet A 2005 Jun 15;135(3):297-301. doi: 10.1002/ajmg.a.30690. PMID: 15887274

Diagnosis

Dohlman JC, Elliott AT
Ophthalmic Plast Reconstr Surg 2023 Jul-Aug 01;39(4):e117-e119. Epub 2023 Mar 9 doi: 10.1097/IOP.0000000000002374. PMID: 36893073
Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK
Ophthalmic Genet 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905. PMID: 36695497
Vasanthapuram VH, Ali MJ
Ophthalmic Plast Reconstr Surg 2020 Jan/Feb;36(1):e17-e19. doi: 10.1097/IOP.0000000000001507. PMID: 31593046
Seung HK, Kim HK, Nam WH
Korean J Ophthalmol 2009 Dec;23(4):312-4. Epub 2009 Dec 4 doi: 10.3341/kjo.2009.23.4.312. PMID: 20046696Free PMC Article
Kroes HY, Nievelstein RJ, Barth PG, Nikkels PG, Bergmann C, Gooskens RH, Visser G, van Amstel HK, Beemer FA
Am J Med Genet A 2005 Jun 15;135(3):297-301. doi: 10.1002/ajmg.a.30690. PMID: 15887274

Therapy

Gucev ZS, Kirovski I, Jancevska A, Popjordanova N, Tasic V
Ren Fail 2009;31(7):602-5. doi: 10.1080/08860220902968862. PMID: 19839859

Prognosis

Dohlman JC, Elliott AT
Ophthalmic Plast Reconstr Surg 2023 Jul-Aug 01;39(4):e117-e119. Epub 2023 Mar 9 doi: 10.1097/IOP.0000000000002374. PMID: 36893073
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium
Br J Ophthalmol 2021 Jul;105(7):897-903. Epub 2020 Aug 22 doi: 10.1136/bjophthalmol-2020-316910. PMID: 32829301
Guevara JG, Agarwal-Sinha S
J Med Case Rep 2018 Jun 9;12(1):161. doi: 10.1186/s13256-018-1679-y. PMID: 29884243Free PMC Article
Seung HK, Kim HK, Nam WH
Korean J Ophthalmol 2009 Dec;23(4):312-4. Epub 2009 Dec 4 doi: 10.3341/kjo.2009.23.4.312. PMID: 20046696Free PMC Article
Hunter AG
Am J Med Genet A 2006 Apr 1;140(7):709-26. doi: 10.1002/ajmg.a.31149. PMID: 16523517

Clinical prediction guides

Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium
Br J Ophthalmol 2021 Jul;105(7):897-903. Epub 2020 Aug 22 doi: 10.1136/bjophthalmol-2020-316910. PMID: 32829301
Martin GC, Robert MP, Challe G, Trinh NTH, Attié-Bitach T, Brémond-Gignac D, Bodaghi B, Abadie V
J Pediatr Ophthalmol Strabismus 2020 Mar 1;57(2):120-128. doi: 10.3928/01913913-20200207-02. PMID: 32203596
Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A
Nat Commun 2019 Mar 12;10(1):1180. doi: 10.1038/s41467-019-08547-w. PMID: 30862798Free PMC Article
Dickmann A, Parrilla R, Salerni A, Savino G, Vasta I, Zollino M, Petroni S, Zampino G
J AAPOS 2009 Jun;13(3):264-7. doi: 10.1016/j.jaapos.2009.02.011. PMID: 19541266
Elcioglu NH, Akin B, Toker E, Elcioglu M, Kaya A, Tuncali T, Wollnik B, Hornby S, Akarsu NA
Am J Med Genet A 2007 Jun 15;143A(12):1308-12. doi: 10.1002/ajmg.a.31766. PMID: 17506091

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