[Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). Apropos of a case]

Abstract

G.A.P.O. syndrome is a rare autosomal recessive disorder whose main manifestations are growth retardation, alopecia, pseudo-anodontia, and optic atrophy. Optic atrophy has been reported in 30% of affected patients, along with other optic disc and ophthalmological abnormalities, but their causes remain unclear. We report here the ophthalmological findings in a three-year-old girl suffering from typical G.A.P.O. syndrome with ocular abnormalities and bilateral optic atrophy. Physiopathogenic hypotheses are discussed, especially concerning optic disc alterations which are probably due to intraocular hypertension.