Manifestaciones oculares en el síndrome de Proteus
- M. Sánchez-López
- R. Martínez-Fernández
- A. Santamaría-Carro
ISSN: 0365-6691
Year of publication: 2007
Volume: 82
Issue: 3
Pages: 175-178
Type: Article
More publications in: Archivos de la Sociedad Española de Oftalmologia
Sustainable development goals
Abstract
Case report: Congenital disfiguring malformations are rare and usually have a multifactorial aetiology. Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia. Other abnormalities included strabismus and high myopia. Discussion: Proteus syndrome is a complex hamartomatous disorder defined by local overgrowth, subcutaneous tumours and various bone, cutaneous and/or vascular anomalies. The incidence of ocular malformations in Proteus syndrome is unknown, however a meticulous cranio-facial examination and a systematic study of the eye is required to improve the medical care of these patients.
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