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Harboyan Syndrome

Ayesha Javaid1, Abdullah Ahmad Orakzai1

  • 1Department of Ophthalmology, Khyber Teaching Hospital, Peshawar, Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC
|March 23, 2021
PubMed

Insights

Harboyan syndrome, a rare genetic disorder, involves corneal issues and hearing loss. This case study shows successful treatment and symptom resolution in a teenage patient.

Area of Science:

  • Ophthalmology
  • Genetics
  • Audiology

Background:

  • Harboyan syndrome is a rare inherited condition.
  • It presents with congenital hereditary endothelial dystrophy and sensorineural hearing loss.
  • Early diagnosis and intervention are crucial for managing this syndrome.

Observation:

  • A 16-year-old female patient with Harboyan syndrome was evaluated.
  • She had undergone surgical correction for bilateral corneal opacities and used a hearing aid for sensorineural hearing loss (SNHL).
  • Physical examination and lab tests excluded other potential diagnoses.

Findings:

  • The patient showed significant symptom resolution after treatment.
  • Surgical correction of corneal opacities and hearing aid use were key interventions.
  • The diagnosis of Harboyan syndrome was confirmed through clinical and laboratory findings.

Implications:

  • This case highlights the importance of a multidisciplinary approach in managing Harboyan syndrome.
  • Successful treatment can lead to improved quality of life for affected individuals.
  • Further research into the genetic basis and therapeutic strategies for Harboyan syndrome is warranted.

Keywords:
Harboyan Syndrome; SNHL; Sensorineural hearing lossKeratoplasty; CHED; Congenital hereditary endothelial dystrophy

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