Peters' anomaly and associated congenital malformations
E. I. Traboulsi and I. H. Maumenee
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Baltimore, MD.
We reviewed the clinical findings in 29 patients with Peters' anomaly.
There was developmental delay in 15 patients, congenital heart disease in
eight patients, external ear abnormalities in five patients, structural
defects of the central nervous system in four patients, genitourinary
malformations in four patients, cleft lip/palate in three patients, hearing
loss in three patients, spinal defects in two patients, and single cases of
other less common defects. One patient had fetal alcohol syndrome; one,
Pfeiffer's syndrome; and one, short stature, ulnar hypoplasia, and joint
laxity. Colobomatous microphthalmia was present in seven patients, and
persistent hyperplastic primary vitreous in three patients. Ten patients
developed glaucoma, and three had retinal detachment unrelated to ocular
surgery. Peters' anomaly may be due to a developmental field defect, or the
complex ocular and systemic malformations may be the result of a contiguous
gene syndrome or of a defective homeotic gene controlling the development
of the eye and other body structures.
