Evidence map›Paper›PMID 36595661›Full record

Observational studyAmerican journal of medical genetics. Part A2023

Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.

Amani Albakri, Phattrawan Pisuchpen, Jenina E Capasso, Adele Schneider, Sarina Kopinsky, Tom Glaser, John P-W Chiang, Anamaria Akapito Yomai, Donna McNear, Alex V Levin

Open access · bronzeAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in American journal of medical genetics. Part A, 2023. 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
0.2field-weighted citation impact, top 44% of its field
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 citations in OpenAlex.

  1. Article
  2. Novel Genotype-Phenotype Correlations inOphthalmology science · 2026
    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

10 authors at 9 institutions in 4 countries.

Amani AlbakriPediatric and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
Phattrawan PisuchpenPediatric and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
Jenina E CapassoPediatric and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
Adele SchneiderPediatric and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
Sarina KopinskyDivision of Genetics, Einstein Healthcare Network, Philadelphia, Pennsylvania, USA.
Tom GlaserDepartment of Cell Biology & Human Anatomy, University of California, Davis, California, USA.ORCID 0000-0003-1000-2301
John P-W ChiangMolecular Vision Lab, Hillsboro, Oregon, USA.
Anamaria Akapito YomaiState Department of Health Services, Weno, Chuuk, Federated States of Micronesia.
Donna McNearIndependent Educational Consultant, Cambridge, Minnesota, USA.
Alex V LevinPediatric and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
Thomas Jefferson University · USEinstein Healthcare Network · USKing Khaled Eye Specialist Hospital · SAMicronesia Conservation Trust · FMMinnesota Department of Education · USOregon Physics (United States) · USThai Red Cross Society · THUniversity of California, Davis · USWills Eye Hospital · US

Funding

Genetic Basis of Congenital AnophthalmiaR01EY019497 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GLASER, THOMAS M. · 2009 to 2020
$3.3M
Homeotic hotspot in the human genome for eye and brain diseaseR01EY033742 · NEI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Thomas M. Glaser · 2022 to 2026
$2.2M
NEI NIH HHS R01 EY019497NEI NIH HHS R01 EY033742
6 · The paper itself

Abstract

The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this prospective observational case series, five patients with early-onset vision loss were examined in Chuuk state, FSM, during an ocular genetics visit to study the elevated incidence of microphthalmia. Because of their low vision these patients were incorrectly assumed to have microphthalmia. A complete ophthalmological exam established a clinical diagnosis of LCA. Candidate gene exons were sequenced with a targeted retinal dystrophy panel. Five subjects in three related families were diagnosed with LCA. All five were from Tonoas Island, within the Chuuk Lagoon, with ages ranging from 6 months to 16 years. DNA sequencing of affected individuals revealed a homozygous CRB1 NM_201253.3:c.3134del pathogenic variant, which was heterozygous in their parents. CRB1 genotypes were confirmed by a PCR restriction assay. We report identification of a founder pathogenic variant in CRB1 responsible for autosomal recessive LCA in this isolated community. This discovery will lead to appropriate recurrence risk counseling.

Indexed as

Leber Congenital AmaurosisMicrophthalmosDNA Mutational AnalysisEyeEye ProteinsGenotypeHumansMembrane ProteinsMutationNerve Tissue ProteinsPedigreeCRB1 protein, humanEye ProteinsMembrane ProteinsNerve Tissue ProteinsChuukCRB1Leber congenital amaurosisMicronesia

Identifiers

PMID36595661
PMCPMC10262898
OpenAlexW4313458435

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.