ArticleMedicine2017
The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature.
Article in Medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report.International medical case reports journal · 2026Article
- Efficacy of long-acting growth hormone in Axenfeld-Rieger syndrome with a novel 3.824 Mb 4q25 deletion: a Case Report and systematic literature review.Frontiers in genetics · 2026Article
- Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report.Cureus · 2025Article
- Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family.Journal of clinical medicine · 2024Article
- [Corneal disease in childhood-Hereditary, degenerative or infectious?]Die Ophthalmologie · 2023Review
- First XEN implantation in Axenfeld- Rieger syndrome: A case report and literature review.American journal of ophthalmology case reports · 2022Article
- Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.BMC ophthalmology · 2021Article
- A case of Axenfeld-Rieger syndrome (ARS) with asymmetric ocular phenotypes and left glaucomatous optic atrophy.BMJ case reports · 2020Article
- The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report.BMC ophthalmology · 2020Article
- Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome-Literature Review.Journal of pediatric genetics · 2019Article
- PITX2 deficiency and associated human disease: insights from the zebrafish model.Human molecular genetics · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleAxenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed.
interventionsA pars plana vitrectomy was performed to manage the retinal detachment. OUTCOMES: Her best-corrected visual acuity was slightly improved after surgery. LESSONS: ARS is a developmental defect of ocular anterior segment with various clinical manifestations which might cause misdiagnosis.
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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.