Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome, is a rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

characterized by congenital hereditary corneal dystrophy that occurs alongside progressive

hearing loss Hearing loss is a partial or total inability to Hearing, hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to Language ...

of post-lingual onset.

Signs and symptoms

The following is a list of the symptoms people with this condition exhibit: * Corneal dystrophy * Clouding of the cornea *

Nystagmus Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the invol ...

* 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.

Treatment

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

Hearing loss

Hearing aids A hearing aid is a device designed to improve hearing by making sound audible to a person with hearing loss. Hearing aids are classified as medical devices in most countries, and regulated by the respective regulations. Small audio amplifiers su ...

Cochlear implant A cochlear implant (CI) is a surgically implanted neuroprosthesis that provides a person who has moderate-to-profound sensorineural hearing loss with sound perception. With the help of therapy, cochlear implants may allow for improved speech und ...

Corneal dystrophy

Contact lenses Contact lenses, or simply contacts, are thin lenses placed directly on the surface of the eyes. Contact lenses are ocular prosthetic devices used by over 150 million people worldwide, and they can be worn to correct vision or for cosmetic ...

* Corneal transplant

Diagnosis

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

Genetics

This condition is caused by mutations in the

SLC4A11 Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the ''SLC4A11'' gene. See also * Solute carrier family * Congenital endothelial dystrophy type 2 Congenital hereditary corneal dystrophy (CHED) is a form ...

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 weren't, they found homozygosity for the mutation in the consanguineous families and compound heterozygosity in the non-consanguineous families.

Prevalence

According to

OrphaNet Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It co ...

, only 24 cases from 11 families across the world have been described in medical literature, these families' origins were very diverse, including Indigenous South American,

Sephardic Jewish Sephardic (or Sephardi) Jews (, ; lad, Djudíos Sefardíes), also ''Sepharadim'' , Modern Hebrew: ''Sfaradim'', Tiberian: Səp̄āraddîm, also , ''Ye'hude Sepharad'', lit. "The Jews of Spain", es, Judíos sefardíes (or ), pt, Judeus sefar ...

, Brazilian (of Portuguese descent),

Dutch Dutch commonly refers to: * Something of, from, or related to the Netherlands * Dutch people () * Dutch language () Dutch may also refer to: Places * Dutch, West Virginia, a community in the United States * Pennsylvania Dutch Country People E ...

Romani Romani may refer to: Ethnicities * Romani people, an ethnic group of Northern Indian origin, living dispersed in Europe, the Americas and Asia ** Romani genocide, under Nazi rule * Romani language, any of several Indo-Aryan languages of the Roma ...

, Moroccan, and Dominican.

References

{{reflist Syndromes affecting the nervous system Rare genetic syndromes Autosomal recessive disorders