Evidence map›Paper›PMID 40274012›Full record

ReviewProgress in retinal and eye research2025

Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.

Lola P Lozano, Renato Jensen, Madeleine Jennisch, Narendra G Pandala, Farzad Jamshidi, H Culver Boldt, Budd A Tucker, Elaine M Binkley

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Progress in retinal and eye research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Lola P LozanoInstitute for Vision Research, The University of Iowa, Iowa City, IA, 52242, USA. Electronic address: Lola-lozano@uiowa.edu.
Renato JensenInstitute for Vision Research, The University of Iowa, Iowa City, IA, 52242, USA. Electronic address: Renato-jensen@uiowa.edu.
Madeleine JennischInstitute for Vision Research, The University of Iowa, Iowa City, IA, 52242, USA. Electronic address: madeleine-jennisch@uiowa.edu.
Narendra G PandalaInstitute for Vision Research, The University of Iowa, Iowa City, IA, 52242, USA. Electronic address: narendra-pandala@uiowa.edu.
Farzad JamshidiDepartment of Ophthalmology, University of Pittsburgh/UPMC, Pittsburgh, PA, 15213, USA. Electronic address: jamshidif@upmc.edu.
H Culver BoldtInstitute for Vision Research, The University of Iowa, Iowa City, IA, 52242, USA; Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA. Electronic address: culver-boldt@uiowa.edu.
Budd A TuckerInstitute for Vision Research, The University of Iowa, Iowa City, IA, 52242, USA; Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA. Electronic address: budd-tucker@uiowa.edu.
Elaine M BinkleyInstitute for Vision Research, The University of Iowa, Iowa City, IA, 52242, USA; Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA. Electronic address: Elaine-binkley@uiowa.edu.

Funding

Viral VectorP30CA086862 · NCI · UNIVERSITY OF IOWA · PI Michael J Goodheart · 2000 to 2026
$70.0M
Medical Scientist Training ProgramT32GM139776 · NIGMS · UNIVERSITY OF IOWA · PI Gordon F Buchanan · 2021 to 2026
$6.4M
NCI NIH HHS P30 CA086862NIGMS NIH HHS T32 GM139776
6 · The paper itself

Abstract

In this review, we aim to provide a survey of hereditable tumor predisposition syndromes with a Mendelian inheritance pattern and ocular involvement. We focus our discussion on von Hippel-Lindau disease, neurofibromatosis type 1, NF2-related schwannomatosis, tuberous sclerosis complex, retinoblastoma, and the BAP1 tumor predisposition syndrome. For each of the six diseases, we discuss the clinical presentation and the molecular pathophysiology. We emphasize the genetics, current research models, and therapeutic developments. After reading each disease section, readers should possess an understanding of the clinical presentation, genetic causes and inheritance patterns, and current state of research in disease modeling and treatment.

Indexed as

Genetic Predisposition to DiseaseNeoplastic Syndromes, HereditaryHumansNeurilemmomaNeurofibromatosis 1RetinoblastomaTuberous SclerosisTumor Suppressor ProteinsUbiquitin Thiolesterasevon Hippel-Lindau DiseaseBAP1 protein, humanTumor Suppressor ProteinsUbiquitin ThiolesteraseBAP1 tumor predisposition syndromeCancer predisposition syndromeInherited intraocular tumorMendelian inheritanceNeurofibromatosisRetinoblastomaTuberous SclerosisUveal melanomavon Hippel-Lindau

Identifiers

PMID40274012
PMCPMC12646286

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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 Socratic graph.