[MIM 182 230]

see also: septo-optic dysplasia)

Rare: 1/10,000. Majority of sporadic cases but a few familial ones have been reported.

Clinical triad of: 

1)        hypoplasia of the optic nerves (uni - or bilateral): strabismus, nystagmus

2)         various hormonal pituitary deficiencies  (60-80%): growth hormone but also thyrotropin-releasing, adrenocorticotropic and gonadotropic hormones

3)        defects at the level of the cerebral midline: agenesis of the septum pellucidum (60 %) or the corpus callosum

In case of malformations of the cerebral cortex, this is called septo-optic dysplasia.

Mutations in the genes:

-        HESX1 (3p21.2-p21.1.) 

-        SOX2 (3q 26.3-q27): with anophthalmia or microphthalmia

-        SOX3 (Xq26.3): no ocular abnormalities

-        OTX2 (14q21-q22): hypopituitarism and antehypophyseal hypoplasia 

-        there are many cases where no mutation was found but environmental factors are possibly involved: alcohol, drugs, young maternal age.

The age of diagnosis depends in part on the severity of the clinical picture:

-         newborn: hypoglycemia, jaundice, micropenis, nystagmus, anomalies of the median line (including cleft palate)

-         child: growth retardation, visual disorders, seizures

-         sometimes: autism, diabetes insipidus, obesity, anosmia, deafness, disorders of thermoregulation

Anesthetic implications: 

visual impairment, mental retardation, plan for a supplementation with hormones of pituitary origin, monitor blood sugar, prevent hypothermia

References : 

-        Sherlock DA, McNicol LR. 
Anaesthesia and septo-optic dysplasia. 
Anaesthesia 1987; 42: 1302-5.

Updated: August 2019