Novel genes associated with isolated optic nerve hypoplasia in 6 family trios ‐ a clinical and exome study

作者：P Bitoun; A Boland Auge; D Bacq Daian; E PIpiras; B Benzacken; S Kuzbari; V Renault; B Parfait; J F Deleuze

来源：Acta Ophthalmologica, 2017, 95.

DOI：10.1111/j.1755-3768.2017.02781

Purpose(#br)Optic nerve hypoplasia ( ONH ) is a rare blinding malformation, ONH is often syndromic with MRI pituitary anomalies. We explore genetic causes of isolated ONH(#br)Methods(#br)Probands (2F/4M) 0.5‐6 yrs with normal pituitary MRI were enrolled after consent with Pediatric, dysmorphologic a...