Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity.

Presentation

All patients described suffered from developmental delay, intellectual disability (intelligence quotient range 48-74) and decreased visual acuity. Ocular abnormalities include small discs, pale discs, disc excavation, strabismus and latent nystagmus.

Other features of this condition are somewhat variable and include

• Facial
  • Protruding ears
  • Helical anomalies
  • Small nasal ridge
  • High nasal bridge
  • Upturned nose
  • Epicanthal folds
  • Upslanting palpebral fissures
• Skeletal
  • Tapering fingers.
  • Hypotonia

Genetics

This condition is caused by mutations in the NR2F1 gene. This gene is located on the long arm of chromosome 5 (5q15).The gene encodes a protein that acts as a nuclear receptor and transcriptional regulator. This condition is inherited in an autosomal dominant fashion.

Management

There is no curative treatment known at present for his condition. Management is supportive.

Epidemiology

This condition is considered to be rare with less than 50 cases described in the literature up to 2019.

History

This condition was first described in 2014.