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Infantile glaucoma in Down's syndrome (trisomy 21)
E I Traboulsi1, E Levine, M B Mets
1Center for Sight, Georgetown University Medical Center, Washington, D.C. 20007.
Insights
Infantile glaucoma in Down
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Down's syndrome (trisomy 21) is associated with various congenital anomalies.
- Infantile glaucoma is a rare but serious condition requiring early diagnosis and intervention.
Observation:
- Five patients with Down's syndrome and bilateral infantile glaucoma were studied.
- Four presented in infancy with corneal clouding, elevated intraocular pressure, and photophobia.
- One case was diagnosed late due to nasolacrimal duct obstruction.
Findings:
- Two patients developed cataracts and retinal detachment, necessitating multiple surgeries.
- The combination of congenital glaucoma, severe myopia, and cataracts in trisomy 21 increases risk for poor visual outcomes.
- Retinal detachment is a significant complication in this cohort.
Implications:
- Early screening for infantile glaucoma in infants with Down's syndrome is crucial.
- Comprehensive ophthalmological management is vital for patients with trisomy 21 and glaucoma.
- Understanding these associations can improve long-term visual prognosis in affected children.
Abstract:
We examined five patients with Down's syndrome and bilateral infantile glaucoma. In the first few months of life four patients had large cloudy corneas, breaks in Descemet's membrane, increased intraocular pressure, photophobia, and tearing. In one patient the diagnosis was delayed until 3 1/2 years of age because of concomitant nasolacrimal duct obstruction. Two patients developed cataracts and retinal detachment and have undergone multiple surgical procedures. The clinical course in these two older patients suggests that coexistence of congenital glaucoma, severe myopia, and cataracts in patients with trisomy 21 strongly predisposes for the development of retinal detachment and poor visual outcome.