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

Autor: Tamíres Able Carmona, Marcella Polisuk, Larissa de Sá Barreto, Daniele Bravim Longo, Renato Sztern Queiroz, Rachel Simões Cavalcanti
Jazyk: English<br />Spanish; Castilian<br />Portuguese
Rok vydání: 2023
Předmět:
Zdroj: Revista Brasileira de Oftalmologia, Vol 82 (2023)
Druh dokumentu: article
ISSN: 1982-8551
DOI: 10.37039/1982.8551.20230014
Popis: ABSTRACT 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.
Databáze: Directory of Open Access Journals