A Case of Peters' Anomaly.
- Author:
Se Jin PARK
1
;
Jung Lim BYUN
;
Sang Taek LEE
;
Ki Cheol SHIN
;
Min Hee KIM
Author Information
1. Department of Pediatrics and Ophthalmology1 College of Medicine, Konkuk University, Seoul, Korea. kmh@kuh.ac.kr
- Publication Type:Case Report
- Keywords:
Peters' anomaly;
Central corneal opacity;
Gene mutation
- MeSH:
Anterior Chamber;
Central Nervous System;
Chromosome Aberrations;
Corneal Opacity;
Corneal Stroma;
Craniofacial Abnormalities;
Descemet Membrane;
Endothelium;
Epilepsy;
Heart Septal Defects, Atrial;
Humans;
Infant;
Keratoplasty, Penetrating;
Microphthalmos;
Optic Nerve;
Retinaldehyde;
Wills
- From:Korean Journal of Perinatology
2007;18(3):298-302
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Peters' anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. It is defined as a congenital central corneal opacity with corresponding defects in the posterior corneal stroma, Descemet's membrane, and endothelium. Peters' anomaly may be associated with other ocular or systemic abnormalities like microphthalmos, colobomata, retinal and optic nerve dysplasia, developmental delay, central nervous system defects, craniofacial abnormalities, seizure disorders, genitourinary malformations, and cardiopulmonary defects. Peters' anomaly may also have an inherited pattern, mostly autosomal recessive and dominant inheritance. Mutations involve the PAX6 gene, RIEG1 gene, and other genes. Management of infants with congenital corneal opacity is quite difficult, but penetrating keratoplasty is known as the effective treatment for visual outcome if it is performed within the first 3 months of life. We recently experienced a case of Peters' anomaly in association with atrial septal defect & chromosomal abnormality, therefore herein present it with a brief review of relevant literature.
