This is consistent with the presentation of the Chinese ARS patients of the present study. The proband presented with glaucoma and severe visual field defect in the right eye but a normal visual field in the left eye. [spandidos-publications.com]

There are some limitations in the present case: Only 1 ARS patient was presented because it is a kind of rare autosomal dominant disorder in the ophthalmic clinic. [journals.lww.com]

Typically, patients who present with associated systemic abnormalities tend to have a PITX2 mutation, whereas patients who only present with ocular features, sometimes alongside heart defects and hearing loss, tend to have a FOXC1 mutation. [rarediseases.org]

Low vision aids can be useful.[5] A 22 year old male, presented to us with headache, eye ache and loss of vision progressive deterioration since birth to the present status of vision of finger counting at 1.5 mts both eyes. [djo.org.in]

In this present study, the translocation t(4;11)(q25;pter) was seen. [casereports.in]

• Saddle Nose

  […] deformity Saddle nose Ski jump nose [ more ] 0011120 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Ectopia pupillae Displaced pupil 0009918 Growth hormone deficiency 0000824 Hydrocephalus Too much cerebrospinal fluid in the brain [rarediseases.info.nih.gov]

• Abdominal Mass

  Otherwise, craniofacial and dental development was normal, no palpable intra-abdominal masses or umbilical hernia were present, and there was no evidence of hypospadias. [jamanetwork.com]

• Regurgitation

  Progressive moderate mitral regurgitation in a children with Axenfeld-Rieger syndrome. The importance of cardiologic follow up. Arch Argent Pediatr 2016;114:e417–20. Cited Here | PubMed [19]. Gripp KW, Hopkins E, Jenny K, et al. [journals.lww.com]

• Periodontitis

  These factors can determine the premature loss of tooth following periodontal disease, furthermore the maintenance of periodontal health is fundamental for implant rehabilitation in sectors with agenesis or where there has been the loss of dental elements [head-face-med.biomedcentral.com]

• Heart Murmur

  She was reported by her son, the proband's father (case III-5), to have had no known heart murmur, exercise intolerance, renal disease, or hearing loss. She died after a myocardial infarction at 65 years of age. [jamanetwork.com]

• Lordosis

  Specialist medical examinations report the following clinical data: psycho-intellectual and motor retardation, skeletal age retardation with vertebral lordosis and joint laxity (Figs. 2 and 3), speech delay, severe bilateral sensorineural hearing loss [head-face-med.biomedcentral.com]

• Osteopenia

  Waldron et al. report the presence of osteopenia of the bones in association with this syndrome (reduced calcification, decreased density or reduced bone mass) with predisposition to osteoporosis, recommending the intake of vitamin D and physical exercise [head-face-med.biomedcentral.com]

• Enlarged Sella

  Craniofacial malformations include maxillary hypoplasia hyperplastic maxillary, cleft palate, mandibular protrusion with anterior open bite, hypertelorism a broad nasal bridge and an enlarged sella turcica. [head-face-med.biomedcentral.com]

In fact, the treatment only involved the use of RPE and fixed orthodontic treatment for alignment of the dental elements. [head-face-med.biomedcentral.com]

Treatment Treatment Options: All patients with Axenfeld-Rieger syndromes must be monitored and treated for glaucoma throughout their lives. References Seifi M, Walter MA. Axenfeld-Rieger syndrome. Clin Genet. 2017 Oct 3. doi: 10.1111/cge.13148. [disorders.eyes.arizona.edu]

Standard Therapies Treatment The main course of treatment in ARS is the management of glaucoma (if present) with medications, usually consisting of eye drops. [rarediseases.org]

Regarding treatment the presence of glaucoma requires prompt and vigorous treatment but control is difficult with blindness too often the result. Oral surgery may be beneficial for dental problems. [djo.org.in]

More Types of Axenfeld-Rieger syndrome type 3 » Genetics of Axenfeld-Rieger syndrome type 3 Treatments See also the following treatment articles: Treatments for Axenfeld-Rieger syndrome Names and Terminology References Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov [familydiagnosis.com]

Diagnosis and Prognosis: Your eye doctor is the one to diagnose this condition. [disorders.eyes.arizona.edu]

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]

Etiology Patients with ARS have been found to have mutations in the transcription factor genes PITX2 (4q25) and FOXC1 (6p25). A large number of different mutations have been identified but there is no clear genotype-phenotype relationship. [orpha.net]

Several theories have been proposed to explain the etiology of FECD. [scielo.br]

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]

Epidemiology/Pathophysiology This disorder is seen is approximately 1/200,000 live births. There is no sex predilection. [eyewiki.aao.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]

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]

[…] follows: Detection of any of these mutations can give patients a clear diagnosis and prenatal procedures such as preimplantation genetic diagnosis, Chorionic villus sampling and Amniocentesis can be offered to patients and prospective parents. [11] Pathophysiology [ipfs.io]

Epidemiology/Pathophysiology This disorder is seen is approximately 1/200,000 live births. There is no sex predilection. [eyewiki.aao.org]

Rieger syndrome, Iridogoniodysgenesis with somatic anomalies, Goniodysgenesis hypodontia, RGS Symptoms - Axenfeld-Rieger syndrome Causes - Axenfeld-Rieger syndrome Prevention - Axenfeld-Rieger syndrome Not supplied. [checkorphan.org]

The prognosis is excellent in the absence of glaucoma but monitoring via periodic eye examinations is important throughout life as glaucoma can appear at any time and must be treated to prevent blindness. [disorders.eyes.arizona.edu]

CONCLUSION Early diagnosis of WS in the emergency department is important to prevent pedicle torsion or splenic necrosis and to avoid splenectomy. [wjgnet.com]

Primary prevention Peters’ anomaly is an in utero abnormality of multiple gene loci that cause anterior segment dysgenesis. No primary prevention has been described for this disorder. [eyewiki.aao.org]

A nonsense mutation in PITX2 found in patient M.A. is predicted to result in degradation of the mutant mRNA through the nonsense-mediated decay pathway that prevent the synthesis of the truncated protein [ 14 ]. [molvis.org]