J Korean Ophthalmol Soc.  2019 Dec;60(12):1323-1328. 10.3341/jkos.2019.60.12.1323.

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

• Son KY
• Paik DW
• Cho EH
• Shin D
• Woo HI
• Chung TY
• Lim DH

• KMID: 2466190
• DOI: http://doi.org/10.3341/jkos.2019.60.12.1323

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.

Keyword

Eye manifestations; Keratitis; Keratitis-Ichthyosis-Deafness syndrome

MeSH Terms

Alopecia
Amnion
Bevacizumab
Ceftazidime
Child, Preschool
Cicatrix
Cornea
Corneal Opacity
Diagnosis
Ear
Extremities
Eye Manifestations
Eyebrows
Eyelashes
Eyelids
Glare
Hearing Loss
Humans
Keratitis*
Keratoplasty, Penetrating
Korea
Male
Methicillin-Resistant Staphylococcus aureus
Ophthalmic Solutions
Ophthalmology
Skin
Treatment Outcome*
Vancomycin
Vision Disorders
Bevacizumab
Ceftazidime
Ophthalmic Solutions
Vancomycin

Figure

• 

  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.

• 

  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.

• 

  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.

• 

  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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