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Peters' anomaly: a clinicopathologic study
W M Myles1, M E Flanders, D Chitayat
1Department of Ophthalmology, McGill University, Royal Victoria Hospital, Montreal, Canada.
Journal of Pediatric Ophthalmology and Strabismus
|November 1, 1992
Summary
This study reports two infants with bilateral Peters' anomaly, presenting with severe ocular, cardiac, and central nervous system abnormalities. Despite extensive testing, no genetic or infectious cause was identified, highlighting a potential new syndrome.
Area of Science:
- Ophthalmology
- Genetics
- Neonatology
Background:
- Peters' anomaly is a rare congenital corneal defect.
- Bilateral cases are exceptionally rare, particularly with systemic abnormalities.
Observation:
- Two infants presented with bilateral Peters' anomaly, severe facial dysmorphism, and central nervous system abnormalities.
- One infant experienced premature death, while the other had a severe cardiac defect.
Findings:
- Ocular findings included cataract, corneal defects, persistent hyperplastic primary vitreous, and retinal detachment.
- Neuropathology revealed corpus callosum agenesis and cerebral calcifications.
- Extensive biochemical, genetic, and infectious workups were negative.
Implications:
- This case series suggests a potential new syndrome involving ocular, cardiac, and neurological defects.
- Further research is needed to elucidate the etiology and genetic basis of this condition.