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Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome
Karataş, Ezgi; Utine, Canan Aslı.
Afiliação
  • Karataş, Ezgi; İbrahim Çeçen University Faculty of Medicine. Department of Ophthalmology. Ağrı. TR
  • Utine, Canan Aslı; Dokuz Eylül University Faculty of Medicine. Department of Ophthalmology. Izmir. TR
Arq. bras. oftalmol ; Arq. bras. oftalmol;88(2): e2023, 2025. graf
Article em En | LILACS-Express | LILACS | ID: biblio-1574018
Biblioteca responsável: BR1.1
ABSTRACT
ABSTRACT We present the case of a 37-year-old woman who underwent bilateral penetrating keratoplasty for congenital hereditary endothelial dystrophy at the age of 10 years. Over the subsequent 27 years, the patient's vision slowly deteriorated. Our examination revealed decompensation of the right corneal graft. We addressed this with regraft surgery. We then learned that the patient had been suffering from progressive hearing loss since adolescence. Tonal audiometry revealed hearing per ceptive deafness of 25 dB, which was more prominent in the left ear. Because the patterns of progressive sensorineural hearing loss and congenital hereditary endothelial dystrophy have both been linked to the same gene, slc4a11, we tested our patient for mutations in this gene. The test was positive for a heterozygous slc4a11 gene fifth exon mutation on chromosome 20p13-p12, which causes a frameshift. A combined clinical and genetic evaluation confirmed a diagnosis of Harboyan syndrome. After the genetic diagnosis of the disease, she was evaluated for the need for a hearing aid due to her hearing loss. The patient was also informed about genetic counseling.
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Idioma: En Revista: Arq. bras. oftalmol Assunto da revista: OFTALMOLOGIA Ano de publicação: 2025 Tipo de documento: Article País de afiliação: Turquia País de publicação: Brasil

Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Idioma: En Revista: Arq. bras. oftalmol Assunto da revista: OFTALMOLOGIA Ano de publicação: 2025 Tipo de documento: Article País de afiliação: Turquia País de publicação: Brasil