Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients.

ABSTRACT:

Purpose

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss. The most common causes of KID syndrome are heterozygous missense mutations in the GJB2 gene that codes for connexin 26.

Case report

During the ophthalmological examination, two adult females complained of recent worsening of visual acuity in both eyes. Anamnesis revealed that their eyes were red and irritated from early childhood onwards. Both of them had thickening and keratinisation of eyelid margins, lash loss, diffuse opacification of cornea and conjunctiva caused by keratinisation of eye surface, superficial and deep corneal vascularisation and corneal oedema. Partial sensorineural hearing l

SUBMITTER: Kalezic T 

PROVIDER: S-EPMC9985354 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature