Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.
Tao J et al.
Clinical & Experimental Ophthalmology, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Ota J et al.
Ophthalmic Genetics, 2023
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E et al.
Acta Ophthalmologica, 2021
A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.
Godinho G et al.
Ophthalmic Genetics, 2020
Gene Therapy Restores Mfrp and Corrects Axial Eye Length.
Velez G et al.
Scientific Reports, 2017
Identification of MFRP Mutations in Chinese Families with High Hyperopia.
Xu Y et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2016
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls › GEDi_Diagnoses
Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome.
Zacharias LC et al.
Retinal Cases & Brief Reports, 2015
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Wasmann RA et al.
Acta Ophthalmologica, 2014
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