sensorineural deafness

Harboyan Syndrome

Clinical Characteristics
Ocular Features: 

The combination of congenital endothelial dystrophy and progressive neural deafness is known as Harboyan syndrome.  This disorder must be distinguished from another autosomal recessive disorder, congenital endothelial dystrophy 2 or CHED2 (217700), in which deafness does not occur.  While the corneal disease in Harboyan is present at birth, the deafness often does not become obvious until the second and third decades of life although audiometry can detect some hearing loss in the first decade.  The cornea is thickened and edematous resulting in various degrees of visual impairment, even to the level of counting fingers.  Electrophysiologic studies have been normal.

Systemic Features: 

No systemic abnormalities have been reported.


This is an autosomal recessive disorder caused by a mutation in the SLC4A11 gene located on chromosome 20 (20p13-12).  It is allelic to simple, congenital endothelial corneal dystrophy (CHED2) (217700).  About half of reported cases occur sporadically and the rest have been reported in offspring of consanguineous matings.  Less than 30 cases have been reported worldwide.

Autosomal recessive
Treatment Options: 

Corneal transplantation is the treatment of choice and can result in substantial visual improvement.

Article Title: 

Congenital hereditary endothelial dystrophy with

Desir J, Abramowicz M. Congenital hereditary endothelial dystrophy with
progressive sensorineural deafness (Harboyan syndrome).
Orphanet J Rare Dis. 2008 Oct 15;3:28. Review.

PubMed ID: 

Congenital corneal dystrophy

Harboyan G, Mamo J, Kaloustian V der, Karam F. Congenital corneal dystrophy.
Progressive sensorineural deafness in a family.
Arch Ophthalmol. 1971 Jan; 85(1):27-32.

PubMed ID: 


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