Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features | Microphthalmia, isolated 5:
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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 | Ocular |
Therapies under research |
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Further information |
References
- Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis. 2006;12:1483‐1489
- Crespí J, Buil JA, Bassaganyas F, et al. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen [published correction appears in Am J Ophthalmol. 2015 Aug;160(2):401]. Am J Ophthalmol. 2008;146(2):323‐328
- Cross HE, Yoder F. Familial nanophthalmos. Am J Ophthalmol. 1976;81(3):300‐306
- Sundin OH, Leppert GS, Silva ED, et al. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc Natl Acad Sci. 2005;102(27):9553‐9558
- Nowilaty SR, Khan AO, Aldahmesh MA, Tabbara KF, Al-Amri A, Alkuraya FS. Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. Am J Ophthalmol. 2013;155(2):361‐372