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Peters' anomaly and associated congenital malformations
1Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Baltimore, MD.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|December 1, 1992
Summary
Peters' anomaly is a rare eye condition associated with various developmental and congenital defects. This review highlights the spectrum of ocular and systemic malformations in affected patients.
Area of Science:
- Ophthalmology
- Medical Genetics
- Developmental Biology
Background:
- Peters' anomaly is a congenital eye disorder characterized by defects in the anterior chamber.
- The etiology and associated systemic findings are not fully understood.
Purpose of the Study:
- To review the clinical findings in patients diagnosed with Peters' anomaly.
- To identify the spectrum of ocular and systemic malformations associated with this condition.
Main Methods:
- Retrospective review of clinical data from 29 patients with Peters' anomaly.
- Analysis of ocular and systemic comorbidities.
Main Results:
- Developmental delay (15/29) and congenital heart disease (8/29) were common systemic findings.
- Ocular abnormalities included colobomatous microphthalmia (7/29) and persistent hyperplastic primary vitreous (3/29).
- Glaucoma (10/29) and retinal detachment (3/29) were significant complications.
Conclusions:
- Peters' anomaly is frequently associated with a wide range of systemic and ocular malformations.
- Potential etiologies include developmental field defects, contiguous gene syndromes, or homeotic gene mutations.