A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
نویسندگان
چکیده
منابع مشابه
A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
PURPOSE To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and bu...
متن کاملNovel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome
PURPOSE To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. METHODS Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were f...
متن کاملThe Axenfeld syndrome and the Rieger syndrome.
A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
متن کاملAxenfeld-Rieger syndrome associated with truncus arteriosus: a case report.
The aim of this presentation was to report a case with Axenfeld-Rieger syndrome (ARS) associated with truncus arteriosus (TA). We present a 14-year-old boy with ARS in whom the diagnosis was confirmed by ophthalmologic examination and developmental defects of the teeth and facial bones. Echocardiography revealed TA. With this case demonstrating the association between ARS and TA, the range of r...
متن کاملMissed case of Axenfeld-Rieger syndrome: a case report
BACKGROUND Anterior segment dysgenesis is a failure of normal development of the anterior segment of the eye. The structural anomalies are associated with glaucoma and corneal opacity which may lead to blindness. CASE PRESENTATION A Caucasian male was noted to have 'funny pupils' at the age of seven years but not followed up. He was diagnosed to have Axenfeld-Rieger syndrome at the age of thi...
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ژورنال
عنوان ژورنال: Korean Journal of Ophthalmology
سال: 2015
ISSN: 1011-8942,2092-9382
DOI: 10.3341/kjo.2015.29.4.249