GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer
Küçük Resim Yok
Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
WILEY
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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. (c) 2013 Wiley Periodicals, Inc.
Açıklama
Anahtar Kelimeler
GAPO syndrome, congenital glaucoma, myelinated retinal nerve fiber layer, persistent pupillary membrane, corneal opacity
Kaynak
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
161A
Sayı
4
