Septo-optic dysplasia is the name given to the condition where a child is diagnosed with two or more of the following problems: optic nerve hypoplasia, midline brain abnormalities and pituitary gland abnormalities. It is a rare condition affecting around 1 in every 10,000 births, with boys and girls affected equally.
Septo-optic dysplasia is a congenital condition so it is present at birth, although it may not be diagnosed until childhood, or rarely, adolescence. Septo-optic dysplasia was previously known as de Morsier syndrome.
Infants who initially appear blind may have superimposed delayed visual maturation and therefore may have improvement of their vision during the first several months of life. In children with unilateral or asymmetric bilateral optic nerve hypoplasia, a superimposed amblyopia may reduce vision. The amblyopia should be treated with a trial of occlusion therapy. Children with hypopituitarism should be treated with appropriate hormone replacement.
Support for visual impairment will enable your child to get the most out of school and social life as can additional help for development delay. Neurodevelopmental services are available providing assessment from physiotherapy, ophthalmologists, occupational therapists, speech therapy and neurologists or neurodevelopmental paediatricians.
Although septo-optic dysplasia is a genetic condition, it is extremely unusual for the affected gene to be identified in an individual at this stage. For this reason, genetic counselling is not usually helpful.
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