MFRP gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: membrane frizzled-related protein
  • Frizzled proteins are receptors for the Wnt signalling pathway, which mediates cell fate determination during development
  • Exact function of MFRP is unknown
  • Important for eye development, expressed in the RPE and ciliary body
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal recessive
Ocular featuresMicrophthalmia, isolated 5:
  • Microphthalmia, anophthalmia, coloboma (MAC) spectrum
  • Hypermetropia
  • Scleral thickening
  • Vessel attenuation
  • Mid-peripheral bone-spicule pigmentations
  • Reduced macular reflex
  • Foveoschisis with absent foveal pit
  • Optic disc drusen
Nanophthalmos 2:
  • Nanophthalmos
  • Severe hypermetropia
  • Angle closure glaucoma
  • Macular folds
  • Uveal effusions
Systemic features
  • No extraocular anomalies
Key investigations
  • B-scan USS to measure axial length to document microphthalmia, diagnosing optic disc drusen and detecting possible uveal effusions
  • USS biomicroscopy/anterior segment OCT to measure corneal diameter, anterior chamber depth and anteroposterior length of the lens
  • Full field ERG: Rod-cone dystrophy
  • OCT scan of the macula to detect foveoschisis
  • MRI brain and orbit
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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  1.  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
  2.  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
  3.  Cross HE, Yoder F. Familial nanophthalmos. Am J Ophthalmol. 1976;81(3):300‐306
  4.  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
  5.  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

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Updated on November 30, 2020

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