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Son, Paik, Cho, Shin, Woo, Chung, and Lim: Ocular Manifestations, Treatment Outcome and Clinical Course of Infective Keratitis of Keratitis-Ichthyosis-Deafness Syndrome
Case Report

Journal of the Korean Ophthalmological Society 2019; 60(12): 1323-1328.

Published online: 17 December 2019

DOI: https://doi.org/10.3341/jkos.2019.60.12.1323

Ocular Manifestations, Treatment Outcome and Clinical Course of Infective Keratitis of Keratitis-Ichthyosis-Deafness Syndrome

Ki Young Son, MD1, Dong Won Paik, MD1, Eun Hye Cho, MD2, Daehwan Shin, MD3, Hye In Woo, MD, PhD2, Tae-Young Chung, MD, PhD1, Dong Hui Lim, MD, PhD1, 4

1Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

3Department of Ophthalmology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

4Department of Preventive Medicine, Graduate School of Medicine, The Catholic University of Korea, Seoul, Korea.

Address reprint requests to Dong Hui Lim, MD, PhD. Department of Ophthalmology, Samsung Medical Center, #81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea, Tel: 82-2-3410-5478, Fax: 82-2-3410-0074, ldhlse@gmail.com

Received 20 June 2019       Revised 23 July 2019       Accepted 6 December 2019

©2019 The Korean Ophthalmological Society

The Korean Ophthalmological Society

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

To report the ocular manifestations and treatment outcomes of infective keratitis in a patient with keratitis-ichthyosis-deafness (KID) syndrome and to report a newly discovered mutation in the GJB2 gene in Korea.

Case summary

A 32-month-old boy was referred to the Ophthalmology Clinic for bilateral corneal opacity and glare. The patient showed alopecia, hyperkeratotic skin in both limbs, and hearing loss in both ears. Ocular examination showed loss of eyebrows and eyelashes, hyperkeratotic lesions of the eyelids, mucopurulent discharge in the eyelids, and opacity and scarring with superficial vascularization and conjunctivalization in both corneas. Molecular analysis showed a pathogenic variant in the GJB2 gene and confirmed the diagnosis of KID syndrome. Superficial keratectomy and amniotic membrane transplantation were performed in both eyes. Corneal opacity recurred in the left eye; treatment with bevacizumab eyedrops was instituted and penetrating keratoplasty was performed in the left eye. Corneal stromal opacity relapsed in the left eye; 5% vancomycin and 5% ceftazidime eyedrops were started and methicillin-resistant Staphylococcus aureus was cultured from a corneal scraping specimen.

Conclusions

A careful observation of ocular manifestations in KID syndrome is needed to prevent infective keratitis and limbal cell deficiency; intensive antibiotic eyedrop treatment is recommended to prevent permanent visual impairment.

Keywords: Eye manifestations, Keratitis, Keratitis-Ichthyosis-Deafness syndrome

Figures and Tables

Figure 1

Clinical appearance of a 1-year-old boy with Keratitis-Ichthyosis-Deafness syndrome. (A) Facial appearance with hyperkeratotic lid lesions, alopecia. (B) Palmoplantar hyperkeratosiss. (C) Back appearance with hyperkeratotic skin.

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Figure 2

Anterior segment photograph of the both eyes of a patient with Keratitis-Ichthyosis-Deafness syndrome at first presentation. (A) Right eye of the patient showing corneal opacity, conjunctivalization of the corneal surface, (B) left eye of the patient showing aggressive conjunctivalization of corneal surface.

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Figure 3

Anterior segment photograph of left eye of the patient with Keratitis-Ichthyosis-Deafness syndrome, 1 month after penetrating keratoplasty. (A) Anterior photograph with fluorescein stain of left eye showing total epithelium. (B) Corneal graft showing diffuse stromal opacity.

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Figure 4

A chromatogram of the patient with Keratitis-Ichthyosis-Deafness (KID) syndrome and family. The patient with KID syndrome molecular analysis showed a pathogenic variant in the GJB2 gene (c.34G>T). All members of the patient's family showed no pathogenic variant in GJB2 gene.

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Notes

Conflicts of Interest The authors have no conflicts to disclose.

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