Corneal dystrophy-perceptive deafness syndrome

Medical condition

Corneal dystrophy-perceptive deafness syndrome
Other names	Congenital corneal dystrophy, progressive sensorineural deafness, Harboyan syndrome, CDPD (abbr.), Corneal dystrophy and sensorineural deafness.

This disorder is inherited in an autosomal recessive manner most of the time.
Specialty	Medical genetics
Causes	Genetic mutation
Prevention	none
Prognosis	medium
Frequency	rare, about 24 cases have been described in medical literature
Deaths	-

Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome, is a rare genetic disorder characterized by congenital hereditary corneal dystrophy that occurs alongside progressive hearing loss of post-lingual onset.

Signs and symptoms

Below is a list of the symptoms people with this condition exhibit:

Corneal dystrophy
Clouding of the cornea
Nystagmus
Blurry vision
Generalized vision impairment
Progressive post-lingual hearing loss

The latter usually appears between the ages of 20 and 30 years old.

Complications

The hearing loss and visual impairment associated with this condition can cause difficulties with living.

Genetics

This condition is caused by mutations in the SLC4A11 gene which are inherited in an autosomal recessive manner (most of the time). Desir et al. (2007) identified mutations in this gene in 6 families, of which 3 were consanguineous and 3 were not, they found homozygosity for the mutation in the consanguineous families and compound heterozygosity in the non-consanguineous families.

Diagnosis

A diagnosis can be made by general symptom examination and with both ophthalmologic and audiometric studies.

Treatment

Although this condition has no cure, it can be treated.

Hearing loss