septo optic dysplasia

septo optic dysplasia

A rare autosomal recessive condition (OMIM:182230) characterised by optic nerve hypoplasia, absence of the corpus callosum, and hypoplasia of the pituitary gland with panhypopopituitarism.

Molecular pathology
Defects in HESX1, a DNA-binding transcription factor required for the normal development of the forebrain, eyes and other anterior structures, cause septo optic dysplasia.
References in periodicals archive ?
Lliam suffers from a rare condition known as congenital panhypopituitarism, as well as septo optic dysplasia, which both result in him having an adrenal insufficiency.
Five-month-old Nancy Thomas has septo optic dysplasia and her parents had been told she may have to wait up to 10 months for a test.
The health visitor agreed and shortly after his six-week check, Ryan was referred to Yorkhill Hospital in Glasgow, where he was diagnosed with Septo Optic Dysplasia, which is the condition model Jordan's elder son, Harvey, suffers from.