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Abnormal line of Schwalbe morphology

MedGen UID:
867477
•Concept ID:
C4021856
•
Anatomical Abnormality
Synonym: Abnormality of the line of Schwalbe
 
HPO: HP:0008048

Definition

An abnormality of the line of Schwalbe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal line of Schwalbe morphology

Recent clinical studies

Etiology

Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.
Rao A, Padhy D, Sarangi S, Das G
Semin Ophthalmol 2018;33(3):300-307. Epub 2016 Dec 8 doi: 10.1080/08820538.2016.1208767. PMID: 27929720
Anterior chamber angle anomalies associated with signs of pigment dispersion in a group of black probands and their first-degree relatives.
Roberts DK, Flynn MF, Gable EM
Optom Vis Sci 2001 Mar;78(3):133-41. doi: 10.1097/00006324-200103000-00004. PMID: 11327673
Outcome of anterior-segment surgery in Rieger's anomaly.
Dietlein TS, Jacobi PC, Krieglstein GK
Ger J Ophthalmol 1996 Nov;5(6):439-42. PMID: 9479533
Reduced trabecular meshwork height in juvenile primary open-angle glaucoma.
Stegman Z, Sokol J, Liebmann JM, Cohen H, Tello C, Ritch R
Arch Ophthalmol 1996 Jun;114(6):660-3. doi: 10.1001/archopht.1996.01100130652003. PMID: 8639075
Anterior segment evaluation of infants with retinopathy of prematurity.
Hartnett ME, Gilbert MM, Richardson TM, Krug JH Jr, Hirose T
Ophthalmology 1990 Jan;97(1):122-30. doi: 10.1016/s0161-6420(90)32637-4. PMID: 2314833

Diagnosis

Posterior segment findings in Axenfeld-Rieger syndrome.
Jacobson A, Bohnsack BL
J AAPOS 2022 Dec;26(6):320-322. Epub 2022 Sep 22 doi: 10.1016/j.jaapos.2022.08.263. PMID: 36152758
Complete detachment of the Schwalbe's line in a case of Axenfeld-Reiger anomaly - A rare presentation.
Mitra A, Choudhury S, Sar S, Das N, Chaudhury D
Indian J Ophthalmol 2022 Jul;70(7):2648-2650. doi: 10.4103/ijo.IJO_2291_21. PMID: 35791187Free PMC Article
Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.
Gołaszewska K, Dub N, Saeed E, Mariak Z, Konopińska J
BMC Ophthalmol 2021 Mar 29;21(1):154. doi: 10.1186/s12886-021-01899-2. PMID: 33781219Free PMC Article
Ocular hypertension in Axenfeld-Rieger Syndrome.
Espinosa-Barberi G, Galván González JF, Antón A
Rom J Ophthalmol 2020 Oct-Dec;64(4):455-458. doi: 10.22336/rjo.2020.70. PMID: 33367186Free PMC Article
Anomalies associated with Axenfeld-Rieger syndrome.
Ozeki H, Shirai S, Ikeda K, Ogura Y
Graefes Arch Clin Exp Ophthalmol 1999 Sep;237(9):730-4. doi: 10.1007/s004170050304. PMID: 10447647

Therapy

Unusual presentation in Axenfeld-Rieger syndrome.
Parikh RS, Parikh SR, Debashish B, Harsha BL, Thomas R
Indian J Ophthalmol 2011 Jul-Aug;59(4):312-4. doi: 10.4103/0301-4738.82003. PMID: 21666320Free PMC Article

Prognosis

Unusual presentation in Axenfeld-Rieger syndrome.
Parikh RS, Parikh SR, Debashish B, Harsha BL, Thomas R
Indian J Ophthalmol 2011 Jul-Aug;59(4):312-4. doi: 10.4103/0301-4738.82003. PMID: 21666320Free PMC Article
Outcome of anterior-segment surgery in Rieger's anomaly.
Dietlein TS, Jacobi PC, Krieglstein GK
Ger J Ophthalmol 1996 Nov;5(6):439-42. PMID: 9479533
Anterior segment evaluation of infants with retinopathy of prematurity.
Hartnett ME, Gilbert MM, Richardson TM, Krug JH Jr, Hirose T
Ophthalmology 1990 Jan;97(1):122-30. doi: 10.1016/s0161-6420(90)32637-4. PMID: 2314833

Clinical prediction guides

Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.
Gołaszewska K, Dub N, Saeed E, Mariak Z, Konopińska J
BMC Ophthalmol 2021 Mar 29;21(1):154. doi: 10.1186/s12886-021-01899-2. PMID: 33781219Free PMC Article
Ocular hypertension in Axenfeld-Rieger Syndrome.
Espinosa-Barberi G, Galván González JF, Antón A
Rom J Ophthalmol 2020 Oct-Dec;64(4):455-458. doi: 10.22336/rjo.2020.70. PMID: 33367186Free PMC Article
Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
Grosso S, Farnetani MA, Berardi R, Vivarelli R, Vanni M, Morgese G, Balestri P
Am J Med Genet 2002 Aug 1;111(2):182-6. doi: 10.1002/ajmg.10493. PMID: 12210347
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
Smith RS, Zabaleta A, Kume T, Savinova OV, Kidson SH, Martin JE, Nishimura DY, Alward WL, Hogan BL, John SW
Hum Mol Genet 2000 Apr 12;9(7):1021-32. doi: 10.1093/hmg/9.7.1021. PMID: 10767326
Anomalies associated with Axenfeld-Rieger syndrome.
Ozeki H, Shirai S, Ikeda K, Ogura Y
Graefes Arch Clin Exp Ophthalmol 1999 Sep;237(9):730-4. doi: 10.1007/s004170050304. PMID: 10447647

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