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 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 619-621

Keratitis–ichthyosis–deafness (KID) syndrome: Ocular manifestations and management

1 Department of Ophthalmology, Torrecárdenas University Hospital, Almería, Spain
2 Departament of Nursing, Physiotherapy and Medicine, University of Almería, Almería, Spain

Date of Submission25-Dec-2020
Date of Acceptance23-Mar-2021
Date of Web Publication09-Oct-2021

Correspondence Address:
Dr. Antonio Perez-Rueda
Department of Ophthalmology, Torrecardenas University Hospital, Almeria
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_3703_20

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Keratitis–ichthyosis–deafness (KID) syndrome is a rare hereditary disorder caused by the gene GJB2 encoding connexin 26. Patients present the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis, and ichthyosis. Ocular manifestations are corneal neovascularization and severe Meibomian dysfunction associated with hyperkeratotic lid border. Treatments with ocular lubricants, autologous serum, tetracycline, and anti-inflammatory agents have been described. New therapies such as retinoids, gas-permeable contact lenses, or antiangiogenic agents may be indicated. However, sometimes surgical options such as keratoplasty and keratoprosthesis are needed. We report two cases of KID syndrome with different ocular manifestations and management.

Keywords: Corneal neovascularization, deafness, ichthyosis, keratitis, KID syndrome

How to cite this article:
Perez-Rueda A, Melero-Giménez R, Valero-Marcos A, Fernández-Castro J, Martín-Molina J, Castro-Luna G. Keratitis–ichthyosis–deafness (KID) syndrome: Ocular manifestations and management. Indian J Ophthalmol Case Rep 2021;1:619-21

How to cite this URL:
Perez-Rueda A, Melero-Giménez R, Valero-Marcos A, Fernández-Castro J, Martín-Molina J, Castro-Luna G. Keratitis–ichthyosis–deafness (KID) syndrome: Ocular manifestations and management. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Oct 28];1:619-21. Available from: https://www.ijoreports.in/text.asp?2021/1/4/619/327632

Keratitis–ichthyosis–deafness (KID) syndrome is a rare disease with approximately only 100 cases described in the literature caused by a mutation in the gene GJB2 encoding connexin 26, which is found in the corneal epithelium, epidermis, and inner ear. Most cases are due to sporadic mutations. However, family cases with autosomal dominant and more rarely autosomal recessive inheritance have also been described. A typical triad has been described with congenital bilateral sensorineural hearing loss, keratitis, and ichthyosis.[1],[2]

  Case Reports Top

Case 1

A 9-year-old girl presented with bilateral sensorineural hearing loss, corneal neovascularization, and ichthyosis [Table 1]. Her father had bilateral sensorineural hearing loss because of c. 35delG mutation in the GJB2 gene in homozygosis with autosomal recessive inheritance. The mother had bilateral neurosensorial hearing loss, hyperkeratosis, and recurrent mucocutaneous candidiasis with c. 426 C > S mutation of the GJB2 gene in heterozygosis with autosomal dominant inheritance. The girl presented with F142L mutation in exon 1 of the GJB2 gene encoding connexin 26 with double heterozygosis.
Table 1: Characteristics, inherence, and clinical presentations of KID syndrome cases

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The patient had congenital neurosensorial profound hearing loss with a cochlear implant and universal alopecia, palmoplantar hyperkeratosis, and ungual dystrophy in hands and feet [Figure 1].
Figure 1: Case 1 clinical presentation. (a) Hyperkeratosis and nail dystrophy. (b) Perforated descemetocele treated with amniotic membrane. (c) Right eye with keratinization and palpebral thickening with fall of eyelashes. (d) Left eye with perforated descemetocele and corneal neovascularization

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Thickened and keratinized eyelids, loss of eyelashes, and eyebrows with distichiasis were found on ophthalmological exploration [Figure 1]. The girl had severe blepharitis and dry eye syndrome resistant to treatment with eyelid hygiene, lubricant eye drops, and antibiotic and corticosteroid ointments. In the right eye, she had no corneal involvement. In the left eye, she presented extensive corneal neovascularization with superficial and deep vessels. A 2 mm × 2 mm corneal epithelial defect was observed with an inferior perforated descemetocele [Figure 1].

Ophthalmological management in this patient was surgical with an inlay amniotic membrane transplantation [Figure 1]. Three amniotic membrane layers were cut to fit the size of the central epithelial defect. These layers were placed with the epithelial basement membrane side up and secured to the cornea by interrupted 10-0 nylon sutures. A bandage contact lens and ciprofloxacin 3 mg/mL eye drop three times a day were applied. Amniotic membrane dissolved under a therapeutic contact lens within 4 weeks after surgery. The perforated descemetocele was successfully closed.

Case 2

A 10-year-old boy with a syndromic appearance complained of intense photophobia and epiphora [Table 1]. His parents were cousins. A genetic study showed a sporadic mutation of the GJB2 gene of connexin 26. He presented with congenital bilateral sensorineural hearing loss with a left cochlear implant [Figure 2]. Moreover, he showed scabby skin lesions, hyperkeratosis of hands and feet, and universal alopecia [Figure 2].
Figure 2: Case 2 clinical presentation. (a) Hyperkeratosis and nail dystrophy. (b) Left cochlear implant and alopecia. (c) Face hyperkeratosis plaque. (d) Corneal neovascularization

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The ocular examination was carried out with the lights off and the windows down because of the patient's photophobia. The manifestations were thickened and keratinized eyelids with loss of eyelashes and eyebrows, severe dysfunction of  Meibomian gland More Detailss, limbal stem cell deficiency causing superficial and deep stromal corneal neovascularization in both eyes (worse in the left eye) [Figure 2]. The invasion of the corneal vessels reached the visual axis and invaded the entire corneal limbus. There was no corneal epithelial defect. Enlargement of the lacrimal meniscus because of the epiphora was observed.

Treatment of corneal neovascularization was with prednisolone acetate 10 mg/mL four times a day for the first week, three times a day for the second week, twice a day for the third week, once a day for the fourth week, and then discontinued. Cyclosporine A 0.05% at night was administered from the beginning of the treatment. Ocular lubricants and 20% autologous serum four times a day were added. The signs and symptoms improved. Treatment with oral doxycycline was avoided considering the patient's age and his photosensitivity, although it has excellent anti-inflammatory activity.

  Discussion Top

Ocular manifestations in KID syndrome appear in 95% of patients and are presented later than the rest of the alterations. The most common presentation is corneal neovascularization.[1],[2],[3] Other ocular signs include loss of eyebrows and eyelashes, thickened and keratinized eyelids, dysfunction of Meibomian glands, keratoconjunctivitis sicca, trichiasis, limbal stem cell deficiency, recurrent corneal epithelial defects, poor healing of the corneal epithelium, persistent epithelial defect, and corneal perforation.[4],[5],[6]

Differences in etiopathogenesis can be observed between the two cases presented. In the first case, corneal perforation was caused by a persistent epithelial defect that did not heal with treatment and secondary to the underlying keratoconjunctivitis sicca. It usually presents unilaterally with ulceration and corneal perforation at the end. The most common symptoms are foreign body sensation, redness of the eye, and pain. However, in the second case, corneal vascularization was presented secondary to the underlying limbal stem cell deficiency. It usually presents bilaterally with epiphora and photophobia as accompanying symptoms.

The treatment of ocular manifestation in these patients includes ocular lubricants, autologous serum, tetracycline, and anti-inflammatory agents, including topical corticosteroids and topical cyclosporine A.[7] Several studies have found that topical immunosuppressive therapy of corticosteroids and topical cyclosporine A improves ocular surface disease.[8] The use of gas-permeable contact lenses may enhance visual acuity and quality of life in advanced cases with corneal neovascularization.[9] Patients treated with subconjunctival bevacizumab with partial response of corneal neovascularization and symptomatic improvement have been described.[10] Systemic treatment with retinoids such as isotretinoin may worsen the ocular surface disease.[4] However, mild vision and hearing improvement have been reported with acitretin.[2]

Superficial keratectomies, allogenic limbal transplants with systemic immunosuppression, amniotic membrane transplants, and lamellar and penetrating corneal keratoplasties have been used as surgical procedures. However, none of them have been successful in preventing severe visual loss.[4] Keratoprosthesis may be considered as a final treatment if graft rejection was observed.[3]

  Conclusion Top

We have reported two cases of KID syndrome with different ocular manifestations and management. It is important for ophthalmologsists to be aware of this condition and the alleviation measures.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): A review of the literature and proposal of new terminology. Pediatr Dermatol 1996;13:105-13.  Back to cited text no. 1
Wolfe CM, Davis A, Shaath TS, Cohen GF. Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome. JAAD Case Rep 2017;3:556-8.  Back to cited text no. 2
Jen M, Nallasamy S. Ocular manifestations of genetic skin disorders. Clin Dermatol 2016;34:242-75.  Back to cited text no. 3
Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology 2005;112:e1-6.  Back to cited text no. 4
Sonoda S, Uchino E, Sonoda KH, Yotsumoto S, Uchio E, Isashiki Y, et al. Two patients with severe corneal disease in KID syndrome. Am J Ophthalmol 2004;137:181-3.  Back to cited text no. 5
Al Fahaad H. Keratitis-ichthyosis-deafness syndrome: First affected family reported in the Middle East. Int Med Case Rep J 2014;7:63-6.  Back to cited text no. 6
Djalilian AR, Kim JY, Saeed HN, Holland EJ, Chan CC. Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome. Eye (Lond) 2010;24:738-40.  Back to cited text no. 7
Derse M, Wanke E, Payer H, Rohrbach JM, Zierhut M. Successful topical cyclosporin A in the therapy of progressive vascularised keratitis in keratitis-ichthyosis-deafness (KID) syndrome (Senter syndrome). Klin Monbl Augenheilkd 2002;219:383-6.  Back to cited text no. 8
Strul S, Straughn P. Successfully improving visual acuity in keratitis-ichthyosis-deafness syndrome utilizing gas-permeable lenses: A case report. Eye Contact Lens 2018;44(Suppl 1) S330-2.  Back to cited text no. 9
Caye L, Scheid K, Pizzol MM, Freda R. Use of bevacizumab (Avastin) in KID syndrome: Case report. Arq Bras Oftalmol 2010;73:285-90.  Back to cited text no. 10


  [Figure 1], [Figure 2]

  [Table 1]


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