ArticleOphthalmology2019
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.
Article in Ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03382158 (International Pleuropulmonary Blastoma/DICER1 Registry), which is not on this map. Cited by 18 papers, 2 of them syntheses that pooled it.
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.
International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions)
Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Practical guidelines on imaging of retinoblastoma: a 2025 update on behalf of the European Retinoblastoma Imaging Collaboration and the European Retinoblastoma Group.European radiology · 2026Guideline
- Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.Familial cancer · 2021Guideline
- Orbital tumor inAmerican journal of ophthalmology case reports · 2026Article
- Expanding the Molecular Data ofHuman mutation · 2026Article
- Presumed Bilateral Ciliary Body Medulloepithelioma in a Child with Pleuropulmonary Blastoma andDiagnostics (Basel, Switzerland) · 2025Article
- A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts.Genetics in medicine open · 2024Article
- Unusual phenotypes in patients with a pathogenic germline variant in DICER1.Familial cancer · 2023Article
- Article
- Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA.Ophthalmic genetics · 2022Article
- Article
- DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Review
- DICER1 syndrome in a young adult with pituitary blastoma.Acta neuropathologica · 2021Article
- A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.JAMA network open · 2021Article
- Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation inRhinology online · 2020Article
- DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.Frontiers in oncology · 2020Review
- Imaging of DICER1 syndrome.Pediatric radiology · 2019Review
- Dental abnormalities in individuals with pathogenic germline variation in DICER1.American journal of medical genetics. Part A · 2019Article
- Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts.Current oncology reports · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 7 institutions in 1 country.
Funding
Abstract
purposeTo characterize the ocular phenotype of DICER1 syndrome.
designProspective, single-center, case-control study.
participantsOne hundred three patients with an identified germline pathogenic DICER1 variant (DICER1 carriers) and 69 family control participants underwent clinical and ophthalmic examination at the National Institutes of Health between 2011 and 2016.
methodsAll participants were evaluated with a comprehensive ophthalmic examination, including best-corrected visual acuity, slit-lamp biomicroscopy, and a dilated fundus examination. A subset of patients returned for a more detailed evaluation including spectral-domain OCT, color fundus photography, fundus autofluorescence imaging, visual field testing, full-field electroretinography, and genetic testing for inherited retinal degenerative diseases.
main outcome measuresVisual acuity and examination findings.
resultsMost DICER1 carriers (97%) maintained a visual acuity of 20/40 or better in both eyes. Twenty-three DICER1 carriers (22%) showed ocular abnormalities compared with 4 family controls (6%; P = 0.005). These abnormalities included retinal pigment abnormalities (n = 6 [5.8%]), increased cup-to-disc ratio (n = 5 [4.9%]), optic nerve abnormalities (n = 2 [1.9%]), epiretinal membrane (n = 2 [1.9%]), and drusen (n = 2 [1.9%]). Overall, we observed a significant difference (P = 0.03) in the rate of retinal abnormalities in DICER1 carriers (n = 11 [11%]) versus controls (n = 1 [1.5%]). One patient demonstrated an unexpected diagnosis of retinitis pigmentosa with a novel variant of unknown significance in PRPF31, and 1 showed optic nerve elevation in the setting of increased intracranial pressure (ICP) of unclear cause. Three patients (3%) demonstrated DICER1-related ciliary body medulloepithelioma (CBME), 2 of which were identified during routine examination, a higher rate than that reported previously.
conclusionsOphthalmologists should be aware of the ophthalmic manifestations of DICER1 syndrome, and individuals and families should be counseled on the potential signs and symptoms. We recommend that children with a germline pathogenic variant in DICER1, especially those younger than 10 years, undergo annual dilated ophthalmic examination, looking for evidence of CBME, signs of increased ICP, and perhaps changes in the retinal pigment epithelium.
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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.