Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.
Int Ophthalmol
; 38(6): 2677-2682, 2018 Dec.
Article
em En
| MEDLINE
| ID: mdl-29058245
ABSTRACT
PURPOSE:
To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms.METHODS:
A retrospective chart review of the patient's ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES).RESULTS:
The patient had a comprehensive eye exam in infancy demonstrating bilateral congenital cataracts consisting of posterior lenticonus with a posterior cortical opacity. She also had blepharoptosis with a hooded appearance and retinal pigment hypertrophy of the inferior retina bilaterally. Systemic findings include atrial septal defect, patent ductus arteriosus, congenital clubfoot, syndactyly, tethered cord, and laryngeal cleft. WES identified a de novo heterozygous R1136X pathogenic variant in the BCOR gene.CONCLUSION:
The typical ocular manifestation of OFCD syndrome is congenital cataracts, which can have a significant impact on visual development and so should be considered in patients with multiple medical issues that may fit the diagnosis. A comprehensive eye exam in these patients is thus warranted.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Catarata
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Anormalidades do Olho
/
Microftalmia
/
Proteínas Proto-Oncogênicas
/
Defeitos dos Septos Cardíacos
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
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Infant
Idioma:
En
Revista:
Int Ophthalmol
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos