ArticleClinical genetics2020
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Article in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
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Who cites it
18 citing papers in PubMed, 31 citations in OpenAlex.
- Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia.BMC medical genomics · 2026Article
- Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.JCI insight · 2026Article
- Case Report: Pars plana filtration in the treatment of nanophthalmos patients with secondary angle closure glaucoma.Frontiers in medicine · 2026Article
- Clinical management of nanophthalmos combined with cataract: a case series.Frontiers in medicine · 2026Article
- Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.Investigative ophthalmology & visual science · 2025Article
- A biometric survey of known and prospective murine models of posterior microphthalmia-nanophthalmia.Experimental eye research · 2025Article
- Myelin regulatory factor (MYRF) is a critical early regulator of retinal pigment epithelial development.PLoS genetics · 2025Article
- Insight into small eyes: a practical description from phenotypes presentations to the management.International journal of ophthalmology · 2024Review
- Article
- Bibliometric analysis of microphthalmos and anophthalmos over 20 years: from 2004 to 2023.International journal of ophthalmology · 2024Article
- Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.Scientific reports · 2023Article
- A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia.Frontiers in genetics · 2023Article
- 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.Frontiers in medicine · 2022Article
- Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.Genes · 2021Review
- Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.PLoS genetics · 2021Article
- Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.Scientific reports · 2020Article
- The Pathogenesis and Treatment of Complications in Nanophthalmos.Journal of ophthalmology · 2020Review
- Article
Corrections and comments
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Authors and funding
20 authors at 8 institutions in 3 countries.
Funding
Abstract
Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in MYRF, TMEM98, MFRP, and PRSS56. Two of four PRSS56 families harbored the previously described c.1066dupC variant implicated in over half of all reported PRSS56 kindreds, with different surrounding haplotypes in each family suggesting a mutational hotspot. Individuals with a genetic diagnosis had shorter mean axial lengths and higher hyperopia than those without, with recessive forms associated with the most extreme phenotypes. These findings detail the genetic architecture of nanophthalmos and posterior microphthalmos in a cohort of predominantly European ancestry, their relative clinical phenotypes, and highlight the shared genetic architecture of rare and common disorders of refractive error.
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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.