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Proteus syndrome: report of a case with developmental glaucoma
Zuleyha Sik Sarman1, Nursen Yuksel1, Hakan Sarman2
1Department of Ophthalmology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.
Korean Journal of Ophthalmology : KJO
|June 3, 2014
Summary
This study reports developmental glaucoma and pseudopapilledema in a child with Proteus syndrome. These findings suggest a potential association between Proteus syndrome and these specific ocular conditions.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Proteus syndrome is a rare congenital disorder characterized by asymmetric, progressive overgrowth.
- Ocular manifestations in Proteus syndrome are not well-documented, necessitating further investigation.
Observation:
- A 4.5-year-old patient with Proteus syndrome presented with developmental glaucoma and pseudopapilledema.
- Systemic examination revealed hemihypertrophy, lipoma, macrodactyly, and limb asymmetry.
- Brain MRI identified a cavernoma.
Findings:
- The patient was diagnosed with developmental glaucoma and right pseudopapilledema.
- Bilateral goniotomy surgery was performed for glaucoma with satisfactory outcomes.
Implications:
- Developmental glaucoma and pseudopapilledema may be associated with Proteus syndrome.
- This case highlights the importance of comprehensive ophthalmological evaluation in patients with Proteus syndrome.
- Further research is warranted to elucidate the link between Proteus syndrome and ocular abnormalities.
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