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]

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

CASE SUMMARY A 25-year-old female presented with a constant lower abdominal pain of increasing severity. [wjgnet.com]

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. [rarediseases.org]

• Splenectomy

  Nonetheless, partial splenectomy of the totally strangulated spleen is generally impractical because the torsion involves the vascular pedicle, although a partial splenectomy with splenopexy for a partial infarcted WS has been reported in the literature [wjgnet.com]

• Soft Tissue Mass

  In the current report, a patient with ARS and a nontender soft tissue mass in the left lower abdomen was admitted to the emergency department with the chief complaint of abdominal pain. The mass was later confirmed to be an ectopic spleen. [wjgnet.com]

• 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]

• Lower Abdominal Pain

  CASE SUMMARY A 25-year-old female presented with a constant lower abdominal pain of increasing severity. [wjgnet.com]

• Acute Abdomen

  A wandering spleen presenting as an acute abdomen: case report. J Emerg Med. 2012;43:e303-e305. [PubMed] [DOI] 4. Gilman RS, Thomas RL. Wandering spleen presenting as acute pancreatitis in pregnancy. Obstet Gynecol. 2003;101:1100-1102. [wjgnet.com]

• Scotoma

  Static perimetry revealed defects in the visual field – arcuate scotoma in upper hemisphere, and the OCT examination of the macula revealed the absence of the physiological pit. [bmcophthalmol.biomedcentral.com]

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]

After treatment with 10 μM DEAB, treatment with 0.1 nM and 1 nM RA did not affect EOM organization (O, P). Treatment with 10 nM RA with 10 μM DEAB resulted in EOMs that were thickened and disorganized as the IO muscles were connected to each other. [iovs.arvojournals.org]

In case of glaucoma, the goal of treatment is to reach low IOP. Surgery is performed if eye drops are not sufficient in lowering IOP. [orpha.net]

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]

Relevant External Links for PITX2 Genetic Association Database (GAD) PITX2 Human Genome Epidemiology (HuGE) Navigator PITX2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PITX2 No data available for Genatlas for PITX2 Gene Identification [genecards.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]

Pathophysiology Normal corneal development depends on neural crest migration which occurs in 3 distinctive waves during embryogenesis to produce the structures of the anterior chamber. This typically occurs during the 7th week of gestation. [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]