Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome

Esotropia, nistagmo e estafiloma de disco óptico na síndrome de Donnai-Barrow

A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.

Keywords:
Nistagmus; Staphyloma; Esotropia; Donnai-Barrow syndrome; Hypertelorism