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Microcornea-myopic chorioretinal atrophy(MMCAT)

MedGen UID:
815897
Concept ID:
C3809567
Disease or Syndrome
Synonym: Microcornea, myopic chorioretinal atrophy, and telecanthus
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ADAMTS18 (16q23.1)
 
Monarch Initiative: MONDO:0014195
OMIM®: 615458
Orphanet: ORPHA369970

Definition

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment. [from ORDO]

Clinical features

From HPO
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Wide nose
MedGen UID:
140869
Concept ID:
C0426421
Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Increase in width of the nasal tip.
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.
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.
Chorioretinal degeneration
MedGen UID:
99273
Concept ID:
C0521683
Pathologic Function
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.

Professional guidelines

PubMed

Stingl K, Stingl K, Schwartz H, Reid MW, Kempf M, Dimopoulos S, Kortuem F, Borchert MS, Lee TC, Nagiel A
Ophthalmology 2023 Jul;130(7):764-770. Epub 2023 Feb 21 doi: 10.1016/j.ophtha.2023.02.015. PMID: 36822437Free PMC Article
Yokoi T, Ohno-Matsui K
Asia Pac J Ophthalmol (Phila) 2018 Nov-Dec;7(6):415-421. Epub 2018 Sep 26 doi: 10.22608/APO.2018290. PMID: 30255668
Wong TY, Ohno-Matsui K, Leveziel N, Holz FG, Lai TY, Yu HG, Lanzetta P, Chen Y, Tufail A
Br J Ophthalmol 2015 Mar;99(3):289-96. Epub 2014 Jul 1 doi: 10.1136/bjophthalmol-2014-305131. PMID: 24990871Free PMC Article

Recent clinical studies

Etiology

Ng DSC, Chan LKY, Lai TYY
Clin Exp Ophthalmol 2023 Apr;51(3):229-242. Epub 2023 Jan 11 doi: 10.1111/ceo.14200. PMID: 36594934
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Yokoi T, Ohno-Matsui K
Asia Pac J Ophthalmol (Phila) 2018 Nov-Dec;7(6):415-421. Epub 2018 Sep 26 doi: 10.22608/APO.2018290. PMID: 30255668
Ohno-Matsui K, Kawasaki R, Jonas JB, Cheung CM, Saw SM, Verhoeven VJ, Klaver CC, Moriyama M, Shinohara K, Kawasaki Y, Yamazaki M, Meuer S, Ishibashi T, Yasuda M, Yamashita H, Sugano A, Wang JJ, Mitchell P, Wong TY; META-analysis for Pathologic Myopia (META-PM) Study Group
Am J Ophthalmol 2015 May;159(5):877-83.e7. Epub 2015 Jan 26 doi: 10.1016/j.ajo.2015.01.022. PMID: 25634530

Diagnosis

Ng DSC, Chan LKY, Lai TYY
Clin Exp Ophthalmol 2023 Apr;51(3):229-242. Epub 2023 Jan 11 doi: 10.1111/ceo.14200. PMID: 36594934
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Yokoi T, Ohno-Matsui K
Asia Pac J Ophthalmol (Phila) 2018 Nov-Dec;7(6):415-421. Epub 2018 Sep 26 doi: 10.22608/APO.2018290. PMID: 30255668

Therapy

Kawashima Y, Hata M, Miyake M, Kusaka M, Oishi A, Ooto S, Tamura H, Miyata M, Uji A, Ueda-Arakawa N, Takahashi A, Tsujikawa A
Retina 2024 Jan 1;44(1):127-135. doi: 10.1097/IAE.0000000000003930. PMID: 37695978
Cheong KX, Xu L, Ohno-Matsui K, Sabanayagam C, Saw SM, Hoang QV
Surv Ophthalmol 2022 Nov-Dec;67(6):1603-1630. Epub 2022 Mar 31 doi: 10.1016/j.survophthal.2022.03.007. PMID: 35367479
Ng DSC, Fung NSK, Yip FLT, Lai TYY
Expert Opin Biol Ther 2020 Dec;20(12):1385-1393. Epub 2020 Oct 12 doi: 10.1080/14712598.2021.1830969. PMID: 33003962
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Haug SJ, Wong RW, Day S, Choudhry N, Sneed S, Prasad P, Read S, McDonald RH, Agarwal A, Davis J, Sarraf D
Retina 2016 Dec;36 Suppl 1:S159-S167. doi: 10.1097/IAE.0000000000001267. PMID: 28005674

Prognosis

Kawashima Y, Hata M, Miyake M, Kusaka M, Oishi A, Ooto S, Tamura H, Miyata M, Uji A, Ueda-Arakawa N, Takahashi A, Tsujikawa A
Retina 2024 Jan 1;44(1):127-135. doi: 10.1097/IAE.0000000000003930. PMID: 37695978
Ng DSC, Chan LKY, Lai TYY
Clin Exp Ophthalmol 2023 Apr;51(3):229-242. Epub 2023 Jan 11 doi: 10.1111/ceo.14200. PMID: 36594934
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Ohno-Matsui K, Lai TY, Lai CC, Cheung CM
Prog Retin Eye Res 2016 May;52:156-87. Epub 2016 Jan 6 doi: 10.1016/j.preteyeres.2015.12.001. PMID: 26769165
Cho BJ, Shin JY, Yu HG
Eye Contact Lens 2016 Jan;42(1):9-15. doi: 10.1097/ICL.0000000000000223. PMID: 26649982

Clinical prediction guides

Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Lee EK, Lee SY, Oh BL, Yoon CK, Park UC, Yu HG
Am J Ophthalmol 2021 Apr;224:120-132. Epub 2020 Dec 16 doi: 10.1016/j.ajo.2020.12.010. PMID: 33340506
de Paula Freitas B, Ventura CV, Maia M, Belfort R Jr
Curr Opin Ophthalmol 2017 Nov;28(6):595-599. doi: 10.1097/ICU.0000000000000420. PMID: 28795959
Ohno-Matsui K, Lai TY, Lai CC, Cheung CM
Prog Retin Eye Res 2016 May;52:156-87. Epub 2016 Jan 6 doi: 10.1016/j.preteyeres.2015.12.001. PMID: 26769165
Ohno-Matsui K, Kawasaki R, Jonas JB, Cheung CM, Saw SM, Verhoeven VJ, Klaver CC, Moriyama M, Shinohara K, Kawasaki Y, Yamazaki M, Meuer S, Ishibashi T, Yasuda M, Yamashita H, Sugano A, Wang JJ, Mitchell P, Wong TY; META-analysis for Pathologic Myopia (META-PM) Study Group
Am J Ophthalmol 2015 May;159(5):877-83.e7. Epub 2015 Jan 26 doi: 10.1016/j.ajo.2015.01.022. PMID: 25634530

Recent systematic reviews

Zhang XJ, Chen XN, Tang FY, Szeto S, Ling XT, Lin ZX, Tham CC, Pang CP, Chen LJ, Yam JC
Surv Ophthalmol 2023 Nov-Dec;68(6):1011-1026. Epub 2023 Jul 28 doi: 10.1016/j.survophthal.2023.07.006. PMID: 37517683
Abegunde AT, Ahuja RM, Okafor NJ
Cochrane Database Syst Rev 2016 Jan 15;2016(1):CD011146. doi: 10.1002/14651858.CD011146.pub2. PMID: 26771164Free PMC Article
Wang J, Kang Z
Graefes Arch Clin Exp Ophthalmol 2012 Dec;250(12):1717-23. Epub 2012 Sep 25 doi: 10.1007/s00417-012-2159-5. PMID: 23007232
Ejere HO, Schwartz E, Wormald R, Evans JR
Cochrane Database Syst Rev 2012 Aug 15;2012(8):CD002219. doi: 10.1002/14651858.CD002219.pub2. PMID: 22895928Free PMC Article
Borooah S, Collins C, Wright A, Dhillon B
Br J Ophthalmol 2009 Mar;93(3):284-9. Epub 2008 Dec 19 doi: 10.1136/bjo.2008.150151. PMID: 19098033

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