Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
Additional information
The ADAMTS18 phenotype has overlapping features with Knobloch syndrome due to pathogenic mutations in the COL18A1 gene. It is characterised by anterior segment dysgenesis (cryptless iridies and ectopia lentis), high myopia, vitreoretinal degeneration (leading to an increased risk of retinal detachment) and occipital skull malformation.[1,2] The latter feature has not been associated with mutations in ADAMTS18.[3]
References
- Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS. The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol. 2012;96(6):890-895
- Seaver LH, Joffe L, Spark RP, Smith BL, Hoyme HE. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. Am J Med Genet. 1993;46(2):203-208
- Chandra A, Arno G, Williamson K, et al. Expansion of ocular phenotypic features associated with mutations in ADAMTS18 [published correction appears in JAMA Ophthalmol. 2014 Sep;132(9):1153]. JAMA Ophthalmol. 2014;132(8):996-1001
- Khan AO. Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome [published correction appears in Ophthalmic Genet. 2013 Sep;34(3):182]. Ophthalmic Genet. 2012;33(4):196-199
- Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS. The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. Hum Mutat. 2013;34(9):1195-1199