Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report.
Arq Bras Oftalmol
; 85(1): 85-87, 2022.
Article
em En
| MEDLINE
| ID: mdl-34468556
This is a case report of a 2-year-old male patient with cognitive delay, facial abnormalities, and microcornea in the right eye, who was referred for ophthalmological investigation. The initial ophthalmological examination revealed hypertelorism, epicanthus, nystagmus, esotropia, and microcornea in the right eye. The examination under anesthesia revealed microphthalmia in the right eye, and iris, retina, and optic nerve coloboma in both eyes. Whole exome sequencing revealed evidence of a heterozygotic pathogenic variant in PACS1. The PACS1 pathogenic variant in association with the clinical findings confirmed the diagnosis of Schuurs-Hoeijmakers syndrome. To our knowledge, this is the first report to describe microcornea and microphthalmia as additional ocular manifestations of Schuurs-Hoeijmakers syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Coloboma
/
Anormalidades do Olho
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Arq Bras Oftalmol
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Brasil