Elsevier

Survey of Ophthalmology

Volume 29, Issue 6, May–June 1985, Pages 387-409
Survey of Ophthalmology

Review
Axenfeld-Rieger syndrome. A spectrum of developmental disorders

https://doi.org/10.1016/0039-6257(85)90205-XGet rights and content

Abstract

The clinical and histopathologic features of Axenfeld's anomaly and Rieger's anomaly and syndrome are reviewed, and recent findings regarding the pathogenesis of this spectrum of developmental disorders are discussed. Based on these observations, it has been suggested that a developmental arrest, in the third trimester of gestation, of tissues derived from the neural crest cells accounts for the ocular and most of the nonocular abnormalities in this group of disorders. Since previous collective terms, such as mesodermal dysgenesis and anterior chamber cleavage syndrome, are not consistent with these new observations, the alternative name, Axenfeld-Rieger syndrome, has been proposed. The differential diagnosis of the syndrome includes two additional spectra of disorders: the iridocorneal endothelial syndrome and the posterior polymorphous dystrophies. The most serious ocular problem in Axenfeld-Rieger syndrome is the associated glaucoma, which occurs in a high percentage of patients and is typically difficult to control. Recent observations regarding the mechanism of the glaucoma, as reviewed in this paper, provide guidance in the management of this aspect of Axenfeld-Rieger syndrome.

References (111)

  • M.C. Johnston et al.

    Origins of avian ocular and periocular tissues

    Exp Eye Res

    (1979)
  • C Kupfer et al.

    Observations on the development of the anterior chamber angle with reference to the pathogenesis of congenital glaucomas

    Am J Ophthalmol

    (1979)
  • C Kupfer et al.

    The contralateral eye in the iridocorneal endothelial (ICE) syndrome

    Ophthalmology

    (1983)
  • J.R. Lubin

    Oculocutancous albinism associated with corneal mesodermal dysgenesis

    Am J Ophthalmol

    (1981)
  • M.H. Luntz

    Congenital, infantile, and juvenile glaucomas

    Ophthalmology

    (1979)
  • E Maul et al.

    The outflow pathway in congenital glaucoma

    Am J Ophthalmol

    (1980)
  • A.E. Maumenee

    Further observations on the pathogenesis of congenital glaucoma

    Am J Ophthalmol

    (1963)
  • I Nakanishi et al.

    The histopathology and ultrastructure of congenital, central corneal opacity (Peters' anomaly)

    Am J Ophthalmol

    (1971)
  • R Ritch et al.

    Congenital ectropion uvea with glaucoma

    Ophthalmology

    (1984)
  • A Sadeghi-Nejad et al.

    Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome)

    J Pediatries

    (1974)
  • M.B. Shields

    Progressive essential iris atrophy. Chandler's syndrome, and the iris nevus (Cogan-Reese) syndrome: a spectrum of disease

    Surv Ophthalmol

    (1979)
  • M.B. Shields et al.

    Corneal edema in essential iris atrophy

    Ophthalmology

    (1979)
  • D.L. Stone et al.

    Congenital central corneal leukoma (Peters' anomaly)

    Am J Ophthalmol

    (1976)
  • H.S. Sugar

    Juvenile glaucoma with Axenfeld's syndrome: a histologie report

    Am J Ophthalmol

    (1965)
  • A Tawara et al.

    Developmental immaturity of the trabecular meshwork in congenital glaucoma

    Am J Ophthalmol

    (1981)
  • W.M. Townsend et al.

    Congenital corneal leukomas. 2. Histopathologie findings in 19 eyes with central defects in Descemet's membrane

    Am J Ophthalmol

    (1974)
  • P.P.H. Alkemade
  • L Allen et al.

    A new concept of the development of the anterior chamber angle: its relationship to developmental glaucoma and other structural anomalies

    Arch Ophthalmol

    (1955)
  • D.R. Anderson

    Pathology of the glaucomas

    Br J Ophthalmol

    (1972)
  • D.R. Anderson

    The development of the trabecular meshwork and its abnormality in primary infantile glaucoma

    Trans Am Ophthalmol Soc

    (1981)
  • K.J. Awan

    Peters-Rieger's syndrome

    J Pediatr Ophthalmol

    (1977)
  • T Axenfeld

    Embryotoxon corneae posterius

    Ber Deutsch Ophthalmol Ges

    (1920)
  • J Bourgcois et al.

    Open-angle glaucoma associated with posterior polymorphous dystrophy

    Ophthalmology

    (1984)
  • W.L. Broughton et al.

    Congenital glaucoma associated with a chromosomal defect a histologic study

    Arch Ophthalmol

    (1981)
  • H.M. Burian et al.

    External and gonioscopic visibility of the ring of Schwalbe and the trabecular zone: an interpretation of the posterior corneal embryotoxon and the so-called congenital hyaline membranes on the posterior corneal surface

    Trans Am Ophthalmol Soc

    (1954)
  • H.M. Burian et al.

    Visibility of the ring of Schwalbe and the trabecular zone: an interpretation of the posterior corneal embryotoxon and the so-called congenital hyaline membranes on the posterior corneal surface

    Arch Ophthalmol

    (1955)
  • V.G. Busch et al.

    Dysgenesis mesodermalis et ectodermalis Rieger oder Rieger'sche Krankheit

    Klin Monatsbl Augenheilkd

    (1960)
  • D.G. Campbell

    Formation of iris nodules in primary proliferative endothelial degeneration

    Invest Ophthalmol Vis Sci

    (1979)
  • A Chosack et al.

    Oligodontia associated with defects of the eyes

    Oral Surg

    (1966)
  • I.A. Chisholm et al.

    Antosomal dominant iridogonio-dysgenesis with associated somatic anomalies, four-generation family with Rieger's syndrome

    Br J Ophthalmol

    (1983)
  • G.W. Cibis et al.

    The clinical spectrum of posterior polymorphous dystrophy

    Arch Ophthalmol

    (1977)
  • G.W. Cibis et al.

    Iridocorneal adhesions in posterior polymorphous dystrophy

    Trans Am Acad Ophthalmol Otolaryngol

    (1976)
  • D.G. Cogan et al.

    A syndrome of iris nodules, ectopic Descemet's membrane, and unilateral glaucoma

    Doc Ophthalmol

    (1969)
  • H.E. Cross et al.

    The Rieger syndrome: an antosomal dominant disorder with ocular, dental and systemic abnormalities

    Perspect. Ophthalmol

    (1979)
  • H.E. Cross et al.

    Progressive spontaneous dissolution of the iris

    Surv Ophthalmol

    (1973)
  • A.J. Dark et al.

    Congenital corneal opacities in a patient with Rieger's anomaly and Down's syndrome

    Br J Ophthalmol

    (1968)
  • M.M.Y. Delmarcelle et al.

    Glaucoma congenital associéà des malformations oculaires et somatiques dans deux generations successives

    Bull Soc Belge Ophtalmol

    (1958)
  • R.C. Eagle et al.

    Proliferative endotheliopathy with iris abnormalities: the iridocorneal endothelial syndrome

    Arch Ophthalmol

    (1979)
  • R.C. Eagle et al.

    The iris naevus (Cogan-Reese) syndrome: light and electron microscopic observations

    Br J Ophthalmol

    (1980)
  • W.C. Edwards et al.

    Neural crest cell behavior and facial anomalies

    Perspect Ophthalmol

    (1981)
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