Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection

ABSTRACT

Harboyan syndrome is a rare autosomal recessive disorder characterised by congenital hereditary endothelial dystrophy (CHED), with a later onset of sensorineural hearing loss, due to pathogenic variants in the SLC4A11 gene. Congenital cytomegalovirus (CMV) may also manifest with sensorineural hearing loss and visual impairment. We present a case of a 4-year-old girl, diagnosed at birth with a congenital CMV infection, but careful phenotyping and genetic testing permitted a more likely diagnosis of Harboyan syndrome.

KEYWORDS:

• Harboyan syndrome
• congenital corneal opacity
• congenital cytomegalovirus
• deafness

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

The authors reported there is no funding associated with the work featured in this article.