Septo-optic dysplasia in two siblings.
We treated two siblings, a sister and brother, who had features of septo-optic dysplasia, including bilateral optic nerve hypoplasia, absent septum pellucidum, and partial pituitary insufficiency. Additionally, midline central nervous system abnormalities of the corpus callosum and cerebellum were shown. The familial occurrence of this disorder raises the possibility of autosomal-recessive inheritance.
Benner
J D
JD
Department of Ophthalmology, University of Maryland School of Medicine, Baltimore.
Preslan
M W
MW
Gratz
E
E
Joslyn
J
J
Schwartz
M
M
Kelman
S
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002531:Cerebellum / Q000002:abnormalities; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D012688:Septum Pellucidum / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed