Corneal dystrophy-perceptive deafness syndrome

Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome or corneal dystrophy and perceptive deafness (CDPD), is a rare genetic disorder characterized by the combination of congenital hereditary endothelial corneal dystrophy (CHED) and progressive sensorineural hearing loss. The condition primarily affects two body systems: the eyes and the auditory system. Corneal clouding is typically present from birth or early infancy due to dysfunction of the corneal endothelium, the innermost layer of the cornea responsible for maintaining corneal transparency. This leads to bilateral corneal edema and opacification, resulting in significant visual impairment. The sensorineural hearing loss usually becomes apparent in childhood and is progressive in nature, affecting the ability to perceive sounds. The syndrome is caused by mutations in the SLC4A11 gene, which encodes a membrane transport protein expressed in the corneal endothelium and inner ear. This protein plays a critical role in maintaining fluid balance in these tissues. Loss of function of this transporter leads to corneal edema and inner ear dysfunction. The condition is inherited in an autosomal recessive manner. There is no definitive cure for Harboyan syndrome. Management is primarily supportive and symptomatic. Corneal transplantation (penetrating keratoplasty or endothelial keratoplasty) may be performed to restore corneal clarity and improve vision, though graft survival can vary. Hearing aids or cochlear implants may be considered to address the progressive hearing loss. Early diagnosis and multidisciplinary care involving ophthalmologists and audiologists are important for optimizing outcomes in affected individuals.

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