Evidence map›Paper›PMID 42074612›Full record

ArticleGenes2026

A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the

Nevyana Veleva-Krasteva, Kiril Genov, Kunka Kamenarova, Yoanna Kaneva, Kalina Mihova, Stanislava Kostova, Radka Kaneva, Alexander Oscar

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Nevyana Veleva-KrastevaDepartment of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.
Kiril GenovEye Clinic, University Hospital "Alexandrovska", 1431 Sofia, Bulgaria.
Kunka KamenarovaMolecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0003-4336-8334
Yoanna KanevaDepartment of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.ORCID 0009-0008-8094-2255
Kalina MihovaMolecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.
Stanislava KostovaDepartment of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.
Radka KanevaMolecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0002-1437-1393
Alexander OscarDepartment of Ophthalmology, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The term "childhood glaucoma" summarizes a heterogeneous group of diseases characterized by elevated intraocular pressure and associated optic nerve damage. Secondary glaucoma may develop based on non-acquired ocular anomalies, the most common of which are anterior segment dysgeneses. We present a rare case of infantile childhood glaucoma resulting from anterior segment dysgenesis due to a homozygous mutation c.1881delG, p.(Arg627Serfs*6), leading to loss of function in the

Indexed as

Anterior Eye SegmentCytoskeletal ProteinsEye AbnormalitiesGlaucomaMutationHomozygoteHumansInfantCytoskeletal Proteinsanterior segment dysgenesischildhood glaucomaCPAMD8 gene

Identifiers

PMID42074612
PMCPMC13115957

What OpenQuestion holds

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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.