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Axenfeld anomaly with persistent pupillary membrane.
Ninet L, Denis D, Aziz A. Ninet L, et al. J Fr Ophtalmol. 2023 Apr;46(4):424-425. doi: 10.1016/j.jfo.2022.09.043. Epub 2023 Feb 28. J Fr Ophtalmol. 2023. PMID: 36863901 No abstract available.
Posterior segment findings in Axenfeld-Rieger syndrome.
Jacobson A, Bohnsack BL. Jacobson A, et al. J AAPOS. 2022 Dec;26(6):320-322. doi: 10.1016/j.jaapos.2022.08.263. Epub 2022 Sep 22. J AAPOS. 2022. PMID: 36152758 Free article.
Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). ...
Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe' …
Hyperproliferative embryotoxon simulating double cornea.
Mahalingam K, Singh A, Gupta V, Gupta S. Mahalingam K, et al. BMJ Case Rep. 2021 Dec 22;14(12):e246960. doi: 10.1136/bcr-2021-246960. BMJ Case Rep. 2021. PMID: 34937757 Free PMC article.
Posterior embryotoxon, an anteriorly displaced Schwalbe's line, is the most common feature of Axenfeld Rieger syndrome. We report a case of Axenfeld anomaly with unusual corneal manifestation, that is, a fairly symmetric, hyperproliferated posterior embryotoxon mimi …
Posterior embryotoxon, an anteriorly displaced Schwalbe's line, is the most common feature of Axenfeld Rieger syndrome. We report a case of …
Ocular findings in the Hermansky-Pudlak syndrome.
Izquierdo NJ, Townsend W, Hussels IE. Izquierdo NJ, et al. Trans Am Ophthalmol Soc. 1995;93:191-200; discussion 200-2. doi: 10.1016/s0002-9394(14)70555-0. Trans Am Ophthalmol Soc. 1995. PMID: 8719678 Free PMC article.
Forty-three patients had strabismus; esotropia was found in 24 patients; exotropia in 18 patients; and one patient had hypertropia. Posterior embryotoxon occurred in 15 patients and Axenfeld anomaly in 4 patients. Iris pigmentation varied from minimal to almost comp …
Forty-three patients had strabismus; esotropia was found in 24 patients; exotropia in 18 patients; and one patient had hypertropia. Posterio …
Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome.
Abdalla EM, Nabil KM. Abdalla EM, et al. Ophthalmic Genet. 2012 Jun;33(2):111-5. doi: 10.3109/13816810.2011.634880. Epub 2012 Jan 9. Ophthalmic Genet. 2012. PMID: 22229795
Chromosomal analysis revealed a 45,X Turner syndrome karyotype while the molecular study failed to demonstrate any occult Y chromosome derivative. The ophthalmological assessment revealed sclerocornea and Axenfeld anomaly with synechia. CONCLUSION: Few reported case …
Chromosomal analysis revealed a 45,X Turner syndrome karyotype while the molecular study failed to demonstrate any occult Y chromosome deriv …
Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.
Guerin A, So J, Mireskandari K, Jougeh-Doust S, Chisholm C, Klatt R, Richer J. Guerin A, et al. Am J Med Genet A. 2015 Feb;167A(2):403-6. doi: 10.1002/ajmg.a.36841. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425531
We report on a neonate with a confirmed PTPN11 mutation and ocular findings consistent with Axenfeld anomaly. The patient initially presented with non-immune hydrops and subsequently developed hypertrophic cardiomyopathy and dysmorphic features typical of Noonan syn …
We report on a neonate with a confirmed PTPN11 mutation and ocular findings consistent with Axenfeld anomaly. The patient init …
Axenfeld anomaly and retinal changes in Ramon syndrome: follow-up of two sibs.
Parkin B, Law C. Parkin B, et al. Am J Med Genet. 2001 Nov 22;104(2):131-4. doi: 10.1002/ajmg.1590. Am J Med Genet. 2001. PMID: 11746043
Two siblings with Ramon syndrome (MIM 266270) were found at follow-up to have anterior and posterior segment ocular abnormalities, including Axenfeld anomaly, retinopathy, and pale anomalous optic discs. These features were not described in the original report on th …
Two siblings with Ramon syndrome (MIM 266270) were found at follow-up to have anterior and posterior segment ocular abnormalities, including …
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. Nishimura DY, et al. Nat Genet. 1998 Jun;19(2):140-7. doi: 10.1038/493. Nat Genet. 1998. PMID: 9620769
Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH). This study demonstrates that mutations in FKHL7 cause a spectrum of glaucoma phenotypes....
Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and ir …