Bozkurt, BanuYildirim, Mahmut SelmanOkka, MehmetBitirgen, Gulfidan2020-03-262020-03-2620131552-48251552-4833https://dx.doi.org/10.1002/ajmg.a.35734https://hdl.handle.net/20.500.12395/29536This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end-stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye. (c) 2013 Wiley Periodicals, Inc.en10.1002/ajmg.a.35734info:eu-repo/semantics/closedAccessGAPO syndromecongenital glaucomamyelinated retinal nerve fiber layerpersistent pupillary membranecorneal opacityArticle161A482983423494824Q2WOS:000316631300028Q3