Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome
| Autor: | Manir Ali, Oscar F. Chacon-Camacho, David M. Spokes, Carmel Toomes, Chris F. Inglehearn, Nigel James, Juan Carlos Zenteno, Aine Rice, S G Naylor, David Rivera-De la Parra, Salina Siddiqui |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Male
DNA Mutational Analysis Corneal dystrophy Audiology medicine.disease_cause Polymerase Chain Reaction Antiporters sensorineural hearing loss 0302 clinical medicine Cornea Corneal Dystrophies Hereditary 0303 health sciences Mutation medicine.diagnostic_test Endothelium Corneal Exons Middle Aged Clinical Science corneal endothelial dystrophy 3. Good health Pedigree medicine.anatomical_structure ComputingMethodologies_DOCUMENTANDTEXTPROCESSING Disease Progression Sensorineural hearing loss Female medicine.symptom Congenital hereditary endothelial dystrophy Adult medicine.medical_specialty Adolescent Hearing loss Hearing Loss Sensorineural Anion Transport Proteins Physical examination Biology Harboyan syndrome 03 medical and health sciences Young Adult Audiometry medicine Humans 030304 developmental biology medicine.disease Dermatology Ophthalmology 030221 ophthalmology & optometry SLC4A11 |
| Zdroj: | Cornea |
| ISSN: | 1536-4798 0277-3740 |
| Popis: | Supplemental Digital Content is Available in the Text. Purpose: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. In this report, we investigate whether patients with CHED go on to develop hearing loss and whether their parents, who are carriers of an SLC4A11 mutation, show signs of having FECD. Methods: Patients with CHED were screened for mutations in the SLC4A11 gene and underwent audiometric testing. The patients and their parents underwent a clinical examination and specular microscopy. Results: Molecular analyses confirmed SLC4A11 mutations in 4 affected individuals from 3 families. All the patients were found to have varying degrees of sensorineural hearing loss at a higher frequency range. Guttate lesions were seen in 2 of the 4 parents who were available for examination. Conclusions: Our observations suggest that CHED caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably. Patients with CHED should therefore be monitored for progressive hearing loss. We could not determine conclusively whether the parents of the patients with CHED were at increased risk of developing late-onset FECD. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|