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The EEC syndrome and its ocular manifestations
A A McNab1, M J Potts, R A Welham
1Lacrimal Clinic, Moorfields Eye Hospital, London.
The British Journal of Ophthalmology
|April 1, 1989
Summary
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip and Palate (EEC) syndrome is a rare genetic disorder. Ocular complications, including corneal perforation, require long-term ophthalmic care to prevent vision loss.
Area of Science:
- Genetics
- Ophthalmology
- Craniofacial abnormalities
Background:
- EEC syndrome is a rare autosomal dominant disorder.
- Characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate.
- Exhibits variable expression and incomplete penetrance.
Observation:
- Presents findings in five EEC syndrome cases.
- Focuses on the ocular manifestations.
- Details lacrimal surgery outcomes and spontaneous corneal perforation.
Findings:
- Lacrimal surgery yielded positive results in three patients.
- Two cases experienced spontaneous corneal perforation, a novel complication.
- Progressive visual impairment is a significant concern.
Implications:
- Highlights the importance of comprehensive ophthalmic care for EEC syndrome patients.
- Underscores the potential for severe, progressive visual impairment.
- Suggests early and ongoing management of ocular issues is crucial.