Histopathology and molecular basis of iridogoniodysgenesis syndrome

Ophthalmic Genetics

Volumn 20, Issue 2, 1999, Pages 83-88

  Pearce, William G ^a   Mielke, Bruce ^a   Kulak, Stephen C ^a   Walter, Michael A ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Axenfeld Rieger syndrome; Gene mutation; Histopathology; Iridogoniodysgenesis syndrome; RIEG

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; GLAUCOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOPLASIA; IRIS DISEASE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; TRABECULAR MESHWORK;

EID: 0032815124     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.2.83.2294     Document Type: Article

References (26)

1. Berg F. Erbliches jugenliches Glaucom. Acta Ophthalmol (Copenh) 1932;10:568-587.
2. Weatherill JR, Hart CT. Familial hypoplasia of the iris stroma associated with glaucoma. Br J Ophthalmol 1969;53:433-438.
3. Martin JP, Zorab EC. Familial glaucoma. Br J Ophthalmol 1974;58: 536-542.
4. Jerndal T. Goniodysgenesis and hereditary juvenile glaucoma. A clinical study of a Swedish pedigree. Acta Ophthalmol (Suppl) (Copenh) 1970; No. 107.
5. Jerndal T. Dominant goniodysgenesis with late congenital glaucoma. A reexamination of Berg's pedigree. Am J Ophthalmol 1972;74:28-33.
6. Pearce WG, Wyatt HT, Boyd TAS, Ombres RS, Salter AB. Autosomal dominant iridogoniodysgenesis: genetic features. Can J Ophthalmol 1983;18:7-10.
7. Heon E, Sheth BP, Kalenak JW, Sunden SLF, Streb LM, Taylor CM, Alward WLM, Sheffield VC, Stone EM. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 1995;4:1435-1439.
8. Walter MA, Mirzayans F, Mears AJ, Hickey K, Pearce WG. Autosomal dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Ophthalmology 1996;103:1907-1915.
9. Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WLM, Weber JL, Bell GI, Buetow KH. Linkage of Rieger syndrome to the region of epidermal growth factor gene on chromosome 4. Nat Genet 1993;2:46-49.
10. Semina EV, Reiter R, Leysens NJ, Alward ALM, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene RIEG involved in Rieger syndrome. Nat Genet 1996;14:392-399.
11. Gage PJ, Camper SA. Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum Mol Genet 1997;6:457-464.
12. Muccielli ML, Martinez S, Pattyn A, Goridis C, Brunet JF. Otlx2, an Otx-related homeobox gene expressed in the pituitary gland and in a restricted pattern in the forebrain. Mol Cell Neurosci 1996;8:258-271.
13. Philips JC, Del Bono EA, Haines JL, Pralea AM, Cohen JS, Greff LJ, Wiggs JL. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet 1996;59: 613-619.
14. Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet 1996;59:1321-1327.
15. Gould DB, Mears AJ, Pearce WG, Walter MA. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet 1997;61:761-768.
16. Mirzayans F, Mears AJ, Gou S-W, Pearce WG, Walter MA. Isolation of the chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic mismatch scanning. Am J Hum Genet 1997;61:111-119.
17. Nielsen F, Tranebjaerg L. A case of partial monosomy 21q22.2 associated with Rieger's syndrome. J Med Genet 1984;21:218-221.
18. Burian HM, Braley AE, Allen L. Visibility of the ring of Schwalbe and the trabecular zone: an interpretation of the posterior embryotoxon and the so-called congenital hyaline membranes on the posterior corneal surface. Arch Ophthalmol 1955;53: 767-782.
19. Sugar HS. Juvenile glaucoma with Axenfeld's syndrome: a histologic report. Am J Ophthalmol 1905;59:1012-1019.
20. Wolter JR, Sandall GS, Golnick AL. Mesodermal dysgenesis of the anterior eye: with a partially separated posterior embryotoxon. J Pediatr Ophthalmol 1967;4:41-46.
21. Alkemade PPH. Dysgenesis Mesodermalis of the Iris and Cornea: A Study of Rieger's Syndrome and Peter's Anomaly. Assen, The Netherlands: Van Gorcum, 1969.
22. Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 1983;81:736-784.
23. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol 1985;29:387-409.
24. Alward WLM, Semina EV, Kalenak W, Heon E, Sheth BP, Stone EM, Murray JC. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger Syndrome (RIEG/PITX2 ) gene. Am J Ophthalmol 1998;125:98-100.
25. Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA. Mutation in the RIEG gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet 1998;7(7):1113-1117.
26. Burglin TR. Guidebook to the Homeobox Genes. (Duboule D, editor. A Sambrook and Tooze publication.) Geneva: Oxford University Press, 1994.