Oculodental syndrome (peters syndrome; rutherford syndrome)

General: Similar to Rieger syndrome and Meyer-Schwickerath-Weyer syndrome; Peters syndrome inher 838g65i ited as autosomal recessive with defect of corneogenetic mesoderm characterized by incomplete separation of lens vesicle, causing central opacities of cornea, shallow anterior chamber, synechiae, and remnants of pupillary membrane; anterior pole cataract; Rutherford syndrome inherited as autosomal dominant; exhibits iris and dental anomalies and mental retardation.

Ocular: High myopia; corneoscleral staphyloma; aniridia; macrocornea; opacities of the corneal margin; ectopia lentis with deposits of pigment; macular pigmentation; large excavation of optic nerve with atrophy.

Clinical: Oligodontia; microdontia; hypoplasia of enamel; abnormal tooth positions; hypertrophy of gums; failure of tooth eruption.

Houston IB. Rutherford's syndrome. A familial oculo-dental disorder and electrophysiological study. Acta Paediatr Scand 1966; 55:233-238.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Peters A. Uber Angeborene Defektbildung der Descemetschen Mem bran. Klin Monatsbl Augenheilkd 1906; 44:27.

Reisner SH, et al. Oculodentodigital dysplasia. Am J Dis Child 1969; 118:600.

Rutherford ME. Three generations of inherited dental defects. Br Med J