title: Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation.
abstract: Short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome has been known to cause optic atrophy and achromatopsia resulting from stationary cone dysfunction. This report describes foveal hypoplasia in a brother and sister with SOPH syndrome, which is associated with defects in the neuroblastoma amplified sequence (NBAS) gene. As NBAS gene may play an important role in retinal homeostasis, patients with SOPH should be monitored carefully for ocular abnormalities.
authors.affiliation: Department of Ophthalmology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.
authors.forename: Jun Woo
authors.initials: JW
authors.lastname: Park
authors.affiliation: Department of Ophthalmology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea. Electronic address: kris9352@hanmail.net.
authors.forename: Soo Jung
authors.initials: SJ
authors.lastname: Lee
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins; D009447:Neuroblastoma / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics; D010381:Pelger-Huet Anomaly
chemical_list: C117339:NBAS protein, human; D009363:Neoplasm Proteins