Mouse models of Mfrp loss-of-function have failed to demonstrate the full nanophthalmic phenotype observed in humans and instead present with predominant retinal degeneration [57-60].
To date, several cases of MFRP mutations leading to reduced eye axial length have been reported.
reported a case of two sisters with confirmed MFRP mutations.
also suggested that PRSS56 and MFRP may function through a common biological pathway that affects the emmetropization process, but nature of this interaction is still unclear .
Bhutto et al., "Developmental basis of nanophthalmos: MFRP is required for both prenatal ocular growth and postnatal emmetropization," Ophthalmic Genetics, vol.
Silva et al., "Extreme hyperopia is the result of null mutations in MFRP, which encodes a frizzled-related protein," Proceedings of the National Academy of Sciences of the United States of America, vol.
Bassaganyas et al., "A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen," American Journal of Ophthalmology, vol.
Katoh, "Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type frizzled-related protein," Biochemical and Biophysical Research Communications, vol.
is a non-profit corporation whose board includes the states biggest land managers and landowners, comprising: US Forest Service, Minnesota Department of Natural Resources, University of Minnesota, Minnesota Power, county land departments, forest industry, and private landowners.
The researchers also found that MFRP works in tandem with another gene, CTRP5, and that a balance between the two genes is required for normal actin regulation.
The team then used adeno-associated viruses (AAVs) to introduce normal copies of MFRP into the iPS-derived retinal cells, successfully restoring the cells' function.
"This study provides both in vitro and in vivo evidence that vision loss caused by MFRP mutations could potentially be treated through AAV gene therapy," said coauthor Dieter Egli, an assistant professor of developmental cell biology.