Premium
GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer
Author(s) -
Bozkurt Banu,
Yıldırım Mahmut Selman,
Okka Mehmet,
Bitirgen Gülfidan
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35734
Subject(s) - nerve fiber layer , medicine , optic nerve hypoplasia , atrophy , ophthalmology , anatomy , hypoplasia , hypertelorism , glaucoma , microphthalmos , pathology
Abstract This 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. © 2013 Wiley Periodicals, Inc.