Harboyan Syndrome: A Genetic Eye and Ear Disorder
Author Information
Author(s): Desir Julie, Abramowicz Marc
Primary Institution: Department of Medical Genetics, Hôpital Erasme, ULB, Brussels, Belgium
Hypothesis
Harboyan syndrome is caused by mutations in the SLC4A11 gene, leading to congenital hereditary endothelial dystrophy and progressive sensorineural deafness.
Conclusion
Harboyan syndrome is a rare condition characterized by congenital corneal dystrophy and progressive hearing loss, primarily due to mutations in the SLC4A11 gene.
Supporting Evidence
- Harboyan syndrome is caused by mutations in the SLC4A11 gene.
- All reported cases have shown consistent autosomal recessive inheritance.
- More than 50% of cases are associated with parental consanguinity.
- Hearing loss may be detected as early as age 4 in affected individuals.
Takeaway
Harboyan syndrome is a condition that affects both the eyes and ears, causing cloudy vision and hearing loss as people grow up.
Methodology
The diagnosis is based on clinical criteria, detailed ophthalmological assessment, and audiometry, with molecular confirmation of the clinical diagnosis being feasible.
Limitations
Population-based epidemiological data for Harboyan syndrome are lacking due to the rarity of reported cases.
Participant Demographics
The 24 reported cases are from 11 families of various origins, including Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, and Dominican.
Digital Object Identifier (DOI)
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