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Rieger Syndrome

Axenfeld-Rieger Syndrome


Presentation

  • Two familial patients (father and son) from a consanguineous family were examined in the present study.[ncbi.nlm.nih.gov]
Congestive Heart Failure
  • We report on a patient with infantile glaucoma presenting at age 21 months with congestive heart failure due to a dysplastic arcade mitral valve necessitating valve replacement, and mildly hypoplastic left ventricular outflow tract and aortic arch.[ncbi.nlm.nih.gov]
Regurgitation
  • Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well.[ncbi.nlm.nih.gov]
  • Progressive moderate mitral regurgitation in a children with Axenfeld-Rieger syndrome. The importance of cardiologic follow up. Arch Argent Pediatr 2016;114:e417–20. [19]. Gripp KW, Hopkins E, Jenny K, et al.[journals.lww.com]
Heart Murmur
  • She was still hearing his slight heart murmur, so she referred another echo. After talking more about A-R, she recommended a referral to see a geneticist at WVU.[daltonsstory.blogspot.com]
Hirsutism
  • The patient had atrial septal defect, sensorineural hearing loss, polycystic ovaries, hirsutism, glomerulosclerosis, dental anomalies, and low intelligence.[ncbi.nlm.nih.gov]
Blurred Vision
  • The patient may complain of eyestrain, dry red eyes, headaches, transient blurred vision or diplopia, as well as neckache or backache.[medical-dictionary.thefreedictionary.com]
  • This patient also had a younger sister of 5-year-old, who also suffered from blurred vision and had developmental anomalies in maxillary anterior teeth. 3 Discussion ARS was first described by German ophthalmologist Theodor Axenfeld in 1920 as featured[journals.lww.com]
  • Case 1 A 56 year-old female (mother) had blurred vision complaints. Her best visual acuity was 20/25 in the right eye and 20/50 in the left eye.[scielo.br]
  • This patient also had a younger sister of 5-year-old, who also suffered from blurred vision and had developmental anomalies in maxillary anterior teeth. 3. [ncbi.nlm.nih.gov]
Progressive Loss of Vision
  • Early recognition of dental anomalies aids in detection of the syndrome and prevents progressive loss of vision. This case report discusses the ocular, dental, and craniofacial findings and the overall management of the patient.[ncbi.nlm.nih.gov]

Workup

  • Further workup confined the presence of glaucoma in both of her eyes. Slit lamp examination revealed a prominent Schwalbe's line in all quadrants of both the eyes. There was no anomaly of the lens or fundus. A diagnosis of ARS was made.[aeronline.org]
  • Endoscopic workup was performed in all patients. Gastrointestinal symptoms were mild or absent even in five patients, in which TW could be detected in small intestinal biopsies.[ojrd.biomedcentral.com]

Treatment

  • The treatment of two patients with various anomalies in Axenfeld-Rieger syndrome is described and discussed.[ncbi.nlm.nih.gov]
  • What are the available treatment options? Treatment and clinical care is individualized to the patient. The most important symptom that necessitates treatment in ARS is glaucoma.[mokymai.kaunoklinikos.lt]
  • Treatment - Axenfeld-Rieger syndrome The treatment of Rieger syndrome is symptomatic and supportive and prostheses are used for dental malformations. Also, Genetic counseling may be of benefit for patients and their families.[checkorphan.org]

Prognosis

  • This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome.[ncbi.nlm.nih.gov]
  • Diagnosis - Axenfeld-Rieger syndrome Prognosis - Axenfeld-Rieger syndrome Not supplied. Treatment - Axenfeld-Rieger syndrome The treatment of Rieger syndrome is symptomatic and supportive and prostheses are used for dental malformations.[checkorphan.org]
  • Prognosis Prognosis is good, particularly in the absence of glaucoma. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis Prognosis depends upon the severity of the disease. Eye defects may lead to severly impaired vision or blindness. Rieger syndrome does not generally lead to a shortened life span. BOOKS Jorde, Lynn B., et al., eds.[hourlybook.com]

Etiology

  • Use Additional Use Additional Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10data.com]
  • Its mode of action in the pathogenesis of RIEG was not conclusively proven, since most etiological mutations detected in the RIEG sequence caused amino acid substitutions or splice changes in the homeodomain.[ncbi.nlm.nih.gov]

Epidemiology

  • Summary Epidemiology The syndrome has an estimated prevalence of 1/200,000. Clinical description The clinical manifestations of ARS are highly variable. Features can be divided into ocular and non-ocular findings.[orpha.net]
  • Community Dentistry and Oral Epidemiology. 2004;32:217-226. G reen PD, Hjalt TA, Kirk DE, Sutherland LB, Thomas BL, Sharpe PT, et al. Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: implications for tooth development.[casereports.in]
  • Taylor RH, Ainsworth JR, Evans AR, et al: The epidemiology of pediatric glaucoma: The Toronto experience. Journal of American Association of Pediatric Ophthalmology and Strabismus. 1999;3:308–315. Chen TC, Bhatia LS, Walton DS.[eyewiki.aao.org]
Sex distribution
Age distribution

Pathophysiology

  • Specifically, the high-resolution mode of the AS-OCT program had improved performance in outlining finer structures such as the distinctive endothelial membrane covering the iris in Axenfeld-Rieger syndrome, which enabled better understanding of the pathophysiology[ncbi.nlm.nih.gov]
  • Axenfeld syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3] Pathophysiology [ edit ] The molecular genetics of Axenfeld syndrome are poorly understood, but center on three genes[en.wikipedia.org]
  • Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. Int Ophthalmol. 2018 Feb. 38 (1):409-416. [Medline]. Kargi SH, Koc F, Biglan AW, Davis JS. Visual acuity in children with glaucoma.[emedicine.medscape.com]
  • Disease relevance of RIEG2 Thus, proteasomal regulation of RGS expression in HEK293 cells strongly controls RGS function and a novel RGS2 mutation with decreased protein expression could be relevant to the pathophysiology of hypertension in humans [1][wikigenes.org]

Prevention

  • Early recognition of dental anomalies aids in detection of the syndrome and prevents progressive loss of vision. This case report discusses the ocular, dental, and craniofacial findings and the overall management of the patient.[ncbi.nlm.nih.gov]

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