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The Lenz microphthalmia syndrome
E I Traboulsi1, W Lenz, M Gonzales-Ramos
1Center for Sight, Georgetown University Medical Center, Washington, D.C.
American Journal of Ophthalmology
|January 15, 1988
Summary
Lenz microphthalmia syndrome is a rare genetic disorder characterized by severe eye abnormalities and developmental delays. This study details common features, including microcephaly and skeletal anomalies, in affected individuals.
Area of Science:
- Ophthalmology
- Medical Genetics
- Pediatrics
Background:
- Lenz microphthalmia syndrome is a rare congenital disorder.
- Characterized by severe ocular and systemic malformations.
Observation:
- Two patients with Lenz microphthalmia syndrome were studied.
- Literature review of ten additional cases.
- Combined analysis of twelve patients.
Findings:
- Microphthalmos present in all patients.
- High prevalence of developmental retardation (92%), microcephaly (83%), and external ear abnormalities (83%).
- Other common findings include blepharoptosis (75%), skeletal anomalies (67%), and dental abnormalities (67%).
Implications:
- Understanding the spectrum of Lenz microphthalmia syndrome is crucial for diagnosis.
- Highlights the need for comprehensive genetic and clinical evaluation.
- Informs genetic counseling and management strategies for affected families.