Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Sign Up to like & getrecommendations! Published in 2018 at "Human Genetics"
DOI: 10.1007/s00439-018-1896-x
Abstract: Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia (‘Lenz’-type) syndrome affecting males. OFCD is an X-linked dominant syndrome caused… read more here.
Keywords: phenotype; male linked; microphthalmia; linked bcor ... See more keywords
Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia
Sign Up to like & getrecommendations! Published in 2019 at "Experimental Eye Research"
DOI: 10.1016/j.exer.2019.03.024
Abstract: During an ENU (N-ethyl-N-nitrosourea) mutagenesis screen, we observed a dominant small-eye mutant mouse with viable homozygotes. A corresponding mutant line was established and referred to as Aey69 (abnormality of the eye #69). Comprehensive phenotyping of… read more here.
Keywords: microphthalmia; lens vesicle; gene; eye ... See more keywords
Bilateral Microphthalmia with Septo-Optic Dysplasia
Sign Up to like & getrecommendations! Published in 2021 at "Neuro-Ophthalmology"
DOI: 10.1080/01658107.2020.1791910
Abstract: ABSTRACT A 3-month-old boy was referred for assessment and management of apparently absent ocular globes. Ocular examination showed small orbits with apparently absent globes, small conjunctival cul-de-sac, shallow fornices, microblepharon and sunken eyelids. Magnetic resonance… read more here.
Keywords: optic dysplasia; septo optic; bilateral microphthalmia; microphthalmia ... See more keywords
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1301967
Abstract: ABSTRACT Background: Anophthalmia/microphthalmia/coloboma (MAC) spectrum encompasses the most severe malformations of the eye. Together, they have an incidence of 2 in 10,000 births and can be unilateral or bilateral. These disorders are genetically heterogeneous.Materials and… read more here.
Keywords: variability syndromic; microphthalmia; syndromic microphthalmia; intrafamilial variability ... See more keywords
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1698618
Abstract: Microphthalmia/anophthalmia (M/A) is considered a severe congenital malformation and is the cause of sight impairment worldwide, affecting 3%–12% of children. M/A, as a spectrum, can occur unilaterally or bilaterally, isolated or associated with systemic abnormalities… read more here.
Keywords: microphthalmia; analysis; deletion; syndromic microphthalmia ... See more keywords
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13897
Abstract: Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4–30% of microphthalmia, with the lowest rate… read more here.
Keywords: dominant variants; microphthalmia; variants prr12; prr12 result ... See more keywords
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Sign Up to like & getrecommendations! Published in 2022 at "PLOS ONE"
DOI: 10.1371/journal.pone.0268149
Abstract: Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (with no detectable… read more here.
Keywords: function; microphthalmia; mab21l1; monoallelic variants ... See more keywords
The Incoherent Fluctuation of Folate Pools and Differential Regulation of Folate Enzymes Prioritize Nucleotide Supply in the Zebrafish Model Displaying Folate Deficiency-Induced Microphthalmia and Visual Defects
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.702969
Abstract: Objective Congenital eye diseases are multi-factorial and usually cannot be cured. Therefore, proper preventive strategy and understanding the pathomechanism underlying these diseases become important. Deficiency in folate, a water-soluble vitamin B, has been associated with… read more here.
Keywords: microphthalmia; cell; folate; expression ... See more keywords
A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.835621
Abstract: Background Microphthalmos (MCO) is a rare developmental defect characterized by small malformed eyes. Our study aimed to describe the clinical characteristics of posterior microphthalmos syndrome caused by a novel variant in MFRP gene in a… read more here.
Keywords: mfrp gene; family; microphthalmia; mutation ... See more keywords
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22042190
Abstract: EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic EPHA2 variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previous association with microphthalmia… read more here.
Keywords: microphthalmia congenital; microphthalmia; congenital cataracts; unrelated families ... See more keywords