Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome / Esotropia, nistagmo e estafiloma de disco óptico na síndrome de Donnai-Barrow
Rev. bras. oftalmol
; 82: e0014, 2023. graf
Article
in En
| LILACS
| ID: biblio-1431666
Responsible library:
BR1.2
ABSTRACT
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.
RESUMO
RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.
Key words
Full text:
1
Index:
LILACS
Main subject:
Abnormalities, Multiple
/
Optic Nerve Diseases
/
Esotropia
/
Nystagmus, Pathologic
/
Myopia
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
Rev. bras. oftalmol
Journal subject:
OFTALMOLOGIA
Year:
2023
Type:
Article