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Archivos de la Sociedad Española de Oftalmología
Print version ISSN 0365-6691
Abstract
SANCHEZ-LOPEZ, M.; MARTINEZ-FERNANDEZ, R. and SANTAMARIA-CARRO, A.. Ocular manifestations in Proteus syndrome. Arch Soc Esp Oftalmol [online]. 2007, vol.82, n.3, pp.175-178. ISSN 0365-6691.
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.
Keywords : Proteus syndrome; retinal dysgenesia; myopia; retinal pigmentary abnormalities; optic nerve hypoplasia.