Ophthalmic findings in GAPO syndrome

Background: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Cases: This syndrome has been described in 21 patients from 16 different fa milies. Four cases are from Turkey and have been presented by Sayli and Gul . The purpose of our study is to document: the cases from Turkey and discus s the ophthalmological and neuro-ophthalmolgical findings of these and othe r reported GAPO cases. Observations: All patients in the literature and our 4 cases have severe gr owth retardation with delayed bone age in infancy, characteristic facial ap pearance thigh and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. Optic atrophy was present in 1 of our cases and in 5 previous cases. Glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also obser ved. White eyelashes, seen only in our cases, may be a sign of "early senil ity." Conclusions: Optic atrophy is not a constant finding in GAPO syndrome. Glau coma may accompany the ocular findings. This syndrome has been attributed t o either ectodermal dysplasia or the accumulation of extracellular connecti ve tissue matrix, due to an enzyme deficiency involved in its metabolism. C urrent studies show that an elastin defect and secondary changes in collage n may be important: in the pathogenesis of the disease. Jpn J Ophthalmol 19 99;43:48-52 (C) 1999 Japanese Ophthalmological Society.