Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report.

Madhu Thapa, Pragati Gautam, Sanjeeta Sitaula

Abstract readCase Reports

In one paragraph

Article in JNMA; journal of the Nepal Medical Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing 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

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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

1 citing paper in PubMed.

Case Report: NovelFrontiers in medicine · 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

3 authors.

Madhu ThapaB.P. Koirala Lions Center For Ophthalmic Studies, Department of Ophthalmology, Maharajgunj Medical Campus, Maharajgunj, Kathmandu, Nepal.

Pragati GautamB.P. Koirala Lions Center For Ophthalmic Studies, Department of Ophthalmology, Maharajgunj Medical Campus, Maharajgunj, Kathmandu, Nepal.

Sanjeeta SitaulaB.P. Koirala Lions Center For Ophthalmic Studies, Department of Ophthalmology, Maharajgunj Medical Campus, Maharajgunj, Kathmandu, Nepal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Axenfeld Rieger Syndrome is autosomal dominant genetic condition, which can present with various ocular and non-ocular findings. Anterior segment dysgenesis is the most common ocular finding leading to glaucoma. Non-ocular findings include craniofacial abnormalities, cardiac, dental as well as neurological problems. Mutations in PITX2 and FOXC1 genes have been associated with this condition. FOXC1 mutation causes more ocular findings where as PITX2 mutation has been linked with ocular as well as craniofacial abnormalities. Racial or gender predilection has not been suggested by any literature. Vision loss in these patients is mainly due to uncontrolled glaucoma which needs to be diagnosed and treated urgently.

Indexed as

Anterior Eye SegmentEye AbnormalitiesEye Diseases, HereditaryGlaucoma, Open-AngleFemaleForkhead Transcription FactorsHomeobox Protein PITX2Homeodomain ProteinsHumansIntraocular PressureTranscription FactorsForkhead Transcription FactorsFOXC1 protein, humanHomeobox Protein PITX2Homeodomain ProteinsTranscription Factorsanterior segment dysgenesisAxenfeld Rieger Syndromeglaucoma

Identifiers

PMID41769014

DOI10.31729/jnma.8951

PMCPMC12831844

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