[Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). Apropos of a case].
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.
Dellac
M
M
Service d'Ophtalmologie, C.H.U. de Lille.
Manouvrier-Hanu
S
S
Rouland
J F
JF
D000015:Abnormalities, Multiple; D000505:Alopecia; D000848:Anodontia; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders; D006801:Humans; D009896:Optic Atrophy; D013577:Syndrome
Anomalies ophtalmologiques du syndrome G.A.P.O. (retard de croissance, alopécie, pseudo-anodontie, atrophie optique). A propos d'un cas.