Evidence map›Paper›PMID 40670919›Full record

ArticleBMC ophthalmology2025

A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane.

Bin Meng, Min Cui, Ang Ji

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

Article in BMC ophthalmology, 2025. 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

3 authors.

Bin Meng *Department of Ophthalmology, Beijing Haidian Hospital (Haidian Section of Peking University Third Hospital), Beijing, China. ykysmb1230@163.com.
Min Cui *Department of Ophthalmology, Beijing Haidian Hospital (Haidian Section of Peking University Third Hospital), Beijing, China.
Ang JiDepartment of Ophthalmology, Beijing Haidian Hospital (Haidian Section of Peking University Third Hospital), Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo report the first case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane in Chinese patient. OBSERVATIONS: A 12-year-old female presented with bilateral visual decline. Examination revealed a porcelain-white optic nerve coloboma and epiretinal membrane in the right eye. OCT confirmed deepened optic disc excavation and a thin epiretinal membrane. Visual field testing showed an inferonasal arcuate scotoma. Systemic findings included odontogenic keratocyst and cutaneous basal cell carcinomas. Genetic testing identified a heterozygous PTCH1 mutation. CONCLUSIONS AND IMPORTANCE: Optic nerve coloboma and epiretinal membrane, though rare, can be initial signs of nevoid basal cell carcinoma syndrome. Ophthalmologists are critical in identifying these manifestations, enabling early diagnosis and comprehensive management.

Indexed as

Basal Cell Nevus SyndromeColobomaEpiretinal MembraneOptic DiskOptic NerveChildFemaleHumansPatched-1 ReceptorTomography, Optical CoherencePatched-1 ReceptorPTCH1 protein, humanCase reportEpiretinal membraneNevoid basal cell carcinoma syndromeOptic nerve coloboma

Identifiers

PMID40670919
PMCPMC12265142

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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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.