Condition: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen


rs730882143 in C1QTNF5;MFRP gene and Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen PMID 23742260 2014 Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

PMID 20361016 2010 A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

rs797045054 in MFRP;C1QTNF5 gene and Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.