Erbfragen in der Augenheilkunde

Rieger, H.

doi:10.1007/bf01854455

Cited by 29 publications

(8 citation statements)

References 11 publications

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“…Rieger originally described the typical ocular features in a mother and her two children (Rieger 1935) and later noticed the coincidence of the ocular and dental anomalies (Rieger 1941). Glaucoma has for a long time been known as a complication to the anterior segment dysgenesis (Brændstrup 1948) and is estimated to occur in 50% of patients by the age 20 years (Traboulsi 1998).…”

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confidence: 99%

Rieger syndrome is associated with PAX6 deletion

Riise

Storhaug

Brøndum‐Nielsen

2001

Acta Ophthalmologica Scandinavica

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ABSTRACT.Purpose: Rieger syndrome is an autosomal dominant condition defined by anterior segment dysgenesis in combination with facial, dental, skeletal and umbilical abnormalities. To date Rieger syndrome has been associated with mutations in the PITX2 gene at chromosome 4q25 and a second locus has been found at chromosome 13q14. Methods: We describe a Rieger syndrome case with all the typical dysmorphic features and the molecular genetic finding by use of FISH analysis of the PAX6 gene.Results: An eight-year-old girl had iris stroma hypoplasia, corectopia and iridogoniodysgenesis. She had an underdeveloped premaxilla and a congenital absence of nine teeth in the maxilla. The front teeth in the mandible were pegshaped and all teeth were small. There was failure of involution of the periumbilical skin. FISH analysis using probes for the PAX6 gene showed a small deletion for the PAX6 gene on one homologue of chromosome 11. Conclusion: Rieger syndrome can -in addition to PITX2 gene mutations and abnormalities at chromosome 13q14 -be associated with PAX6 gene abnormalities.

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confidence: 99%

Rieger syndrome is associated with PAX6 deletion

Riise

Storhaug

Brøndum‐Nielsen

2001

Acta Ophthalmologica Scandinavica

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“…Rieger called this condition 'dysgenesis mesodermalis corneae et iridis' [1]. Recognition followed that patients could have dental and facial anomalies in addition to the ocular manifestations [12,13]. This family of diseases was noted to be heritable by Rieger [1,14].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Rieger syndrome: a clinical, molecular, and biochemical analysis

Amendt

Semina

Alward

2000

CMLS, Cell. Mol. Life Sci.

110

108

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Rieger syndrome (RIEG 1; MIM 180500) is display ocular features only. Recently, mutations in the homeodomain transcription factor, PITX2, have been an autosomal dominant disorder of morphogenesis. It shown to be associated with Rieger syndrome. This is a phenotypically heterogeneous disorder characterreview discusses the clinical manifestations of Rieger ized by malformations of the eyes, teeth, and umbilisyndrome and how they correlate with the current cus. RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and molecular and biochemical studies on this human disRieger anomaly (or Rieger eye malformation), which order.

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“…Subsequently in 1935, Rieger considered the embryotoxon posterior and iris hypoplasia to be features of a single disorder that he termed dysgenesis mesodermalis corneae et iridis (3). Some of the patients with this disorder had associated non-ocular developmental defects especially of the teeth, facial bones and periumbilical skin (4,5). The similarity of anterior segment angle defects described by Axenfeld and Rieger has led to the suggestion that these findings are part of a spectrum of developmental disorders (3,6,7).…”

Section: Introductionmentioning

confidence: 99%

Mutation in the RIEG1 Gene in Patients with Iridogoniodysgenesis Syndrome

Kulak

Kozlowski

Semina

et al. 1998

Human Molecular Genetics

115

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Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a prominent Schwalbe line, adhesions between the iris stroma and the iridocorneal angle and increased intraocular pressure. IGDS is characterized by iris hypoplasia, goniodysgenesis and increased intraocular pressure. Each syndrome also presents with non-ocular features including maxillary hypoplasia, micro and anodontia, redundant periumbilical skin, hypospadius (in males), and each has been genetically linked to chromosome 4q25. RIEG1 , the gene responsible for the 4q25 ARS phenotype, recently has been cloned. RIEG1 encodes a novel member of the bicoid class of homeobox proteins known to be active as transcription factors. Mutational analysis has previously detected several mutations in this gene in ARS individuals. We have now detected a mutation in RIEG1 which segregates with the disease phenotype in a family with IGDS. This mutation is a G-->A transition altering an arginine residue to a histidine in a highly conserved location in the second helix of the homeobox of RIEG1. This mutation indicates that IGDS and ARS are allelic variants of the same disorder. This wide variability in clinical consequences of mutations at the RIEG1 4q25 locus implicates the RIEG gene broadly in ocular and craniofacial disorders.

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Erbfragen in der Augenheilkunde

Cited by 29 publications

References 11 publications

Rieger syndrome is associated with PAX6 deletion

Rieger syndrome is associated with PAX6 deletion

Rieger syndrome: a clinical, molecular, and biochemical analysis

Mutation in the RIEG1 Gene in Patients with Iridogoniodysgenesis Syndrome

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