title: Ophthalmic aspects of GAPO syndrome: case report and review.
abstract: This paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Her parents are consanguineous and one of her sisters is also affected. Since the first description by Anderson and Pindborg in 1947, 27 individuals have been reported with this diagnosis. They were from at least 19 different families (four of them from Brazil, including the present one), suggesting a founder effect. The phenotype of this condition, initially considered as the result of an ectodermal dysplasia, could be attributed to the accumulation of extracellular connective tissue matrix and its progressive character must be pointed out. The clinical findings, especially ophthalmological features that include bilateral glaucoma, are reviewed and discussed.
authors.affiliation: Departamento de Oftalmo-Otorrinolaringologia, Universidade Estadual de Campinas, São Paulo, Brazil. priscilarim@uol.com.br
authors.forename: Priscila Hae Hyun
authors.initials: PH
authors.lastname: Rim
authors.forename: Antonia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
mesh_terms: D000328:Adult; D000505:Alopecia / Q000175:diagnosis / Q000235:genetics*; D000848:Anodontia / Q000175:diagnosis / Q000235:genetics*; D001251:Astigmatism / Q000175:diagnosis; D003241:Consanguinity; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006956:Hyperopia / Q000175:diagnosis; D007429:Intraocular Pressure; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014792:Visual Acuity