corneal dystrophy-perceptive deafness syndrome

Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome or CDPD, is a degenerative condition affecting both the eyes and the auditory system. It is caused by changes in the SLC4A11 gene, which plays a critical role in maintaining corneal function. Affected individuals typically present with early ocular findings such as corneal dystrophy and visual impairment, and later develop progressive sensorineural hearing loss. This condition is extremely rare, affecting fewer than 1 in 1,000,000 people.

The clinical presentation is dominated by significant eye findings and hearing impairment. Most individuals experience corneal dystrophy with associated corneal opacity and visual impairment in the vast majority of cases, along with sensorineural hearing loss that worsens over time. Some patients may also exhibit nystagmus. Not all individuals experience all features, and severity varies considerably.

Corneal dystrophy-perceptive deafness syndrome is caused by pathogenic variants in the SLC4A11 gene. This gene encodes a protein essential for the normal function of the corneal endothelium, and its disruption impairs corneal clarity, contributing to visual problems while also affecting auditory structures. The condition follows an autosomal recessive inheritance pattern, which means that an affected individual inherits two copies of the defective gene, one from each parent. It is more common when parents share a common ancestor, and for families in which both parents are carriers, each pregnancy carries a 25% recurrence risk. Genetic counseling is recommended to help families understand these risks and explore family planning options.

Currently, management of corneal dystrophy-perceptive deafness syndrome focuses on supportive care and symptom management, as no FDA-approved treatments are available for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team approach with ongoing monitoring of both visual and auditory functions. Regular surveillance is an essential part of long-term care, helping to identify potential complications early, and genetic counseling is recommended to guide family planning and management decisions. Patients should discuss treatment options with their healthcare team to determine the most appropriate approach for their specific situation.

The long-term outlook for individuals with corneal dystrophy-perceptive deafness syndrome is variable. With current standards of care, many individuals manage their symptoms into adulthood; however, the condition may progress, stabilize, or vary widely between individuals. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with specialists and genetic counselors to receive ongoing guidance as understanding of this condition advances.

Clinical trials are underway exploring new therapeutic approaches for corneal dystrophy-perceptive deafness syndrome. Individuals interested in learning more about research opportunities can search ClinicalTrials.gov or consult their care team about eligibility.