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Ocular manifestations in Proteus syndrome
I De Becker1, D J Gajda, E Gilbert-Barness
1Department of Ophthalmology, Dalhousie University, IWK Grace Health Centre, Halifax, Nova Scotia, Canada.
American Journal of Medical Genetics
|June 22, 2000
Summary
This study details the eye conditions in Proteus syndrome, highlighting neuroretinal issues like strabismus and high myopia. Ocular tumors and strabismus are the most frequent findings in reported cases.
Area of Science:
- Ophthalmology
- Genetics
- Medical Case Study
Background:
- Proteus syndrome is a rare congenital disorder characterized by asymmetric, segmental overgrowth.
- Ocular manifestations are not well-documented, with limited systematic studies available.
Purpose of the Study:
- To describe the ocular manifestations in a patient with Proteus syndrome.
- To review and summarize ocular findings reported in the literature for Proteus syndrome.
Main Methods:
- Detailed clinical examination of ocular features in one patient with Proteus syndrome.
- Comprehensive literature review of ocular manifestations associated with Proteus syndrome, excluding spurious reports.
Main Results:
- The patient presented with neuroretinal maldevelopment and malfunction, including strabismus, nystagmus, high myopia, and retinal pigmentary abnormalities.
- Literature review indicated strabismus and epibulbar tumors as the most commonly reported ocular manifestations in Proteus syndrome.
Conclusions:
- Proteus syndrome can cause severe ocular abnormalities, particularly affecting the neuroretina.
- Further systematic studies are needed to fully understand the spectrum and prevalence of ocular manifestations in Proteus syndrome.