The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56 (Q93012376)

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scientific article published on 28 January 2020

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English	The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56	scientific article published on 28 January 2020

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3 May 2020

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56 (English)

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Basamat Almoallem

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Elfride De Baere

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Thomy de Ravel

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Gavin Arno

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Julie De Zaeytijd

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Hannah Verdin

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Irina Balikova

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Ingele Casteels

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Sarah Hull

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Martina Suzani

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Anne Destrée

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Michelle Peng

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Denise Williams

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John R Ainsworth

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Andrew R Webster

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Bart P Leroy

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Anthony T Moore

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3 May 2020

Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy

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Identification of MFRP Mutations in Chinese Families with High Hyperopia

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Posterior microphthalmos and papillomacular fold-associated cystic changes misdiagnosed as cystoid macular edema following cataract extraction

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Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome.

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Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs

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Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping

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Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma

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Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

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Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia

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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

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Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

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Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.

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Angle-closure glaucoma in a patient with the nanophthalmos-ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex

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Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos

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Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept

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Mutations in a novel serine protease PRSS56 in families with nanophthalmos.

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174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.

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Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos.

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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

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Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

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Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization

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A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation

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Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

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