Optic nerve hypoplasia

Reports from the MHC data base

Report from the Questionnaire (PDF)
Report from the Observation Chart (PDF)

Synonyms  

  • ONH syndrome
  • ONH

Codes

ICD-10: Q04.8
ORPHA: 3157

Estimated occurrence  

17:100,000 children aged 0–18 years.

Etiology  

Unknown, but there are likely several factors. The cause could be an underlying genetic sensitivity in the foetus in combination with early vascular damage during foetal development, which affects the brain’s midline structure and the area of the pituitary gland, hypothalamus, and the optic chiasm.

General symptoms  

Optic nerve hypoplasia is a congenital underdevelopment of the optic nerve. Effect on vision varies from mild to severe on one eye or both. Optic nerve hypoplasia can occur as a single diagnosis or in combination with other types of hormonal and/or neurological disruptions or behavioural disorders. Hormonal deficiencies and intellectual disability are common and epilepsy may occur. Development of fine and gross motor skills is often affected. Other symptoms that may occur are hypotonic muscles and paresis of one side of the body. Variation between the different functional impairments is great. Individuals with hormonal deficiency may need hormone supplements. It is important to get an early diagnosis to avoid the hormonal deficiencies causing too much damage. The risk for hormonal deficiencies seems to increase if the optic nerve hypoplasia is bilateral or if the brain is affected.

Orofacial/odontological symptoms  

In cases with a neurological functional impairment, oral motor skills and speech development can be affected. Eating disorders are common.

Orofacial/odontological treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential in cases of difficulty with dental treatment and tooth brushing.
  • Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.
  • Speech and language difficulties should be treated by a speech therapist.

Sources  

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national centre.
Updated: 2017-09-12 13:18