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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).
Autosomal recessive inheritance (Orphanet)
 
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Broad nasal tip
MedGen UID:
98424
•Concept ID:
C0426429
•
Finding
Increase in width of the nasal tip.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Chorioretinal degeneration
MedGen UID:
99273
•Concept ID:
C0521683
•
Pathologic Function
See: Feature record | Search on this feature
Posterior subcapsular cataract
MedGen UID:
163646
•Concept ID:
C0858617
•
Disease or Syndrome
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME
Invest Ophthalmol Vis Sci 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. PMID: 33137195Free PMC Article
Diagnosis and Treatment of Myopic Maculopathy.
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
Myopic choroidal neovascularisation: current concepts and update on clinical management.
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

An evidence-based review of the epidemiology of myopic traction maculopathy.
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
Mitochondrial Retinopathy.
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
Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.
Gange WS, Sisk RA, Besirli CG, Lee TC, Havunjian M, Schwartz H, Borchert M, Sengillo JD, Mendoza C, Berrocal AM, Nagiel A
Ophthalmol Retina 2022 Jan;6(1):58-64. Epub 2021 Apr 8 doi: 10.1016/j.oret.2021.03.016. PMID: 33838313Free PMC Article
Subacute sclerosing panencephalitis.
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
International photographic classification and grading system for myopic maculopathy.
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

An evidence-based review of the epidemiology of myopic traction maculopathy.
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
Mitochondrial Retinopathy.
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
Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.
Gange WS, Sisk RA, Besirli CG, Lee TC, Havunjian M, Schwartz H, Borchert M, Sengillo JD, Mendoza C, Berrocal AM, Nagiel A
Ophthalmol Retina 2022 Jan;6(1):58-64. Epub 2021 Apr 8 doi: 10.1016/j.oret.2021.03.016. PMID: 33838313Free PMC Article
Asymmetric diabetic retinopathy.
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
Subacute sclerosing panencephalitis.
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

Therapy

An evidence-based review of the epidemiology of myopic traction maculopathy.
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
Safety review of anti-VEGF therapy in patients with myopic choroidal neovascularization.
Ng DSC, Ho M, Iu LPL, Lai TYY
Expert Opin Drug Saf 2022 Jan;21(1):43-54. Epub 2021 Jul 21 doi: 10.1080/14740338.2021.1952979. PMID: 34228553
Ranibizumab for myopic choroidal neovascularization.
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
Subacute sclerosing panencephalitis.
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
DIDANOSINE RETINAL TOXICITY.
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

Myopic macular diseases: A review.
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
An evidence-based review of the epidemiology of myopic traction maculopathy.
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
CHORIORETINAL ATROPHY IN VITREORETINAL LYMPHOMA: Risk Factors and Visual Outcomes.
Marchese A, Cicinelli MV, Cavalleri M, Bandello F, Modorati G, Miserocchi E
Retina 2022 Mar 1;42(3):561-568. doi: 10.1097/IAE.0000000000003352. PMID: 35188494
Subacute sclerosing panencephalitis.
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
Updates of pathologic myopia.
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

Clinical prediction guides

Progression pattern of myopic maculopathy according to the severity of diffuse chorioretinal atrophy and choroidal thickness.
Park UC, Lee EK, Yoon CK, Oh BL
Sci Rep 2022 Feb 23;12(1):3099. doi: 10.1038/s41598-022-07172-w. PMID: 35197535Free PMC Article
Asymmetric diabetic retinopathy.
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
Pigmented Paravenous Chorioretinal Atrophy: Clinical Spectrum and Multimodal Imaging Characteristics.
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
Updates of pathologic myopia.
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
International photographic classification and grading system for myopic maculopathy.
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

Neurological Complications of Congenital Zika Virus Infection.
Marques VM, Santos CS, Santiago IG, Marques SM, Nunes Brasil MDG, Lima TT, Costa PS
Pediatr Neurol 2019 Feb;91:3-10. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.003. PMID: 30591235
Ocular side effects following intravitreal injection therapy for retinoblastoma: a systematic review.
Smith SJ, Smith BD, Mohney BG
Br J Ophthalmol 2014 Mar;98(3):292-7. Epub 2013 Nov 1 doi: 10.1136/bjophthalmol-2013-303885. PMID: 24187047
Summary of prognostic factors for choroidal neovascularization due to pathological myopia treated by intravitreal bevacizumab injection.
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
Ivermectin for onchocercal eye disease (river blindness).
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
Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration.
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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