- Source: Corneal dystrophy-perceptive deafness syndrome
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
=Hearing aids
Cochlear implant
= Corneal dystrophy
=Source:
Contact lenses
Corneal transplant
Prevalence
According to OrphaNet, 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, Brazilian (of Portuguese descent), Dutch, Romani, Moroccan, and Dominican.
See also
Corneal dystrophy
Sensorineural hearing loss
References
Kata Kunci Pencarian:
- Corneal dystrophy-perceptive deafness syndrome
- List of genetic disorders
- List of syndromes
- List of OMIM disorder codes
