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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

This summary is machine-generated.

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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:

Related Experiment Videos

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.