ArticleActa ophthalmologica2014
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Article in Acta ophthalmologica, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Ablation of mpeg+ Macrophages Exacerbates mfrp-Related Hyperopia.Investigative ophthalmology & visual science · 2021Article
- Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.The application of clinical genetics · 2021Review
- Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.Scientific reports · 2020Article
- The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.Scientific reports · 2020Article
- Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.Human genetics · 2019Article
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- Clinical features of posterior microphthalmic and nanophthalmic eyes.International journal of ophthalmology · 2018Article
- Nanophthalmos: A Review of the Clinical Spectrum and Genetics.Journal of ophthalmology · 2018Review
- Choroidal thickness findings in two siblings with nanophthalmos by swept source-OCT: a case report.BMC research notes · 2017Article
- Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages.Investigative ophthalmology & visual science · 2016Article
- Optic disk drusen in children.Survey of ophthalmologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeWe present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds.
methodsOphthalmological examination, general paediatric examination and molecular genetic analysis of the MFRP gene were performed in both affected siblings.
resultsClinical analysis showed high hyperopia (+11 D and +12 D), short axial lengths (15 mm) and the presence of macular folds and optic nerve head drusen. Autofluorescence of the retina was generally normal with subtle macular abnormalities. Sequence analysis showed compound heterozygosity for severe MFRP mutations in both sisters: a previously reported p.Asn167fs (c.498dupC) and a novel stop codon mutation p.Gln91X (c.271C>T).
conclusionThese are the youngest nanophthalmos patients in the literature identified with severe loss of MFRP function, showing already the known structural abnormalities for this disease. Adult patients affected by homozygous or compound heterozygous MFRP mutations generally show signs of retinal dystrophy, with ERG disturbances and RPE abnormalities on autofluorescence imaging. ERG examination could not be performed in these children, but extensive RPE abnormalities were not seen at this young age.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.