Corneal dystrophy-perceptive deafness syndrome explained

Corneal dystrophy-perceptive deafness syndrome
Synonyms:Congenital corneal dystrophy, progressive sensorineural deafness, Harboyan syndrome, CDPD (abbr.), Corneal dystrophy and sensorineural deafness.[1]
Risk:-->
Prevention:none
Management:-->
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.[2]

Signs and symptoms

Below is a list of the symptoms people with this condition exhibit:[3]

The latter usually appears between the ages of 20 and 30 years old.[4]

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

Corneal dystrophy

Source:[5]

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 gene which are inherited in an autosomal recessive manner (most of the time).[6] [7] 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.[8]

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.[9]

See also

Notes and References

  1. Web site: Corneal dystrophy and perceptive deafness .
  2. Web site: 2017-02-01 . Corneal Dystrophy and Perceptive Deafness (SLC4A11) . 2022-08-03 . Sema4 . en-US.
  3. Web site: Corneal dystrophy and perceptive deafness - About the Disease - Genetic and Rare Diseases Information Center . 2022-08-03 . rarediseases.info.nih.gov . en . 2022-08-03 . https://web.archive.org/web/20220803120917/https://rarediseases.info.nih.gov/diseases/1529/corneal-dystrophy-and-perceptive-deafness/ . dead .
  4. Web site: corneal dystrophy and sensorineural deafness Hereditary Ocular Diseases . 2022-08-03 . disorders.eyes.arizona.edu.
  5. Web site: Newman . Dennis . Corneal Dystrophies: Symptoms, Causes, and Treatment . 2022-08-03 . WebMD . en.
  6. Web site: Helpful information about Eugene Australia . 2022-08-03 . eugenelabs.com . 2022-08-03 . https://web.archive.org/web/20220803120845/https://eugenelabs.com/carrier/conditions/corneal-dystrophy-and-perceptive-deafness . dead .
  7. Web site: Entry - #217400 - CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD - OMIM . 2022-08-03 . www.omim.org . en-us.
  8. Desir . Julie . Moya . Graciela . Reish . Orit . Van Regemorter . Nicole . Deconinck . Hilde . David . Karen L. . Meire . Françoise M. . Abramowicz . Marc J. . 2007-05-01 . Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy . Journal of Medical Genetics . 44 . 5 . 322–326 . 10.1136/jmg.2006.046904 . 1468-6244 . 2597979 . 17220209.
  9. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Corneal dystrophy perceptive deafness syndrome . 2022-08-03 . www.orpha.net . en.

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Corneal dystrophy-perceptive deafness syndrome".

Except where otherwise indicated, Everything.Explained.Today is © Copyright 2009-2024, A B Cryer, All Rights Reserved. Cookie policy.