|Year : 2021 | Volume
| Issue : 2 | Page : 268-270
Cataract surgery in Keratitis Ichthyosis Deafness (KID) syndrome. Performing a routine surgery in a rare entity - Points to consider
Monika Balyan, Chintan Malhotra, Arun Kumar Jain
Cornea, Cataract and Refractive Services, Advanced Eye Centre PGIMER, Chandigarh, India
|Date of Submission||20-Jun-2020|
|Date of Acceptance||24-Sep-2020|
|Date of Web Publication||01-Apr-2021|
Dr. Chintan Malhotra
Department Of Ophthalmology, Room No 107, Advanced Eye Centre, Post Graduate Institute Of Medical Education And Research, Chandigarh - 160 012, Sector 12
Source of Support: None, Conflict of Interest: None
We describe the clinical features of a rare congenital ectodermal dysplasia - Keratitis Icthyosis Deafness (KID) syndrome in a 45-year-old female patient, who presented with corneal neovascularization and advanced cataract in both eyes. Sequential bilateral extracapsular cataract extraction with implantation of posterior chamber intraocular lens (PCIOL) in the bag was performed for visual rehabilitation. A review of published literature for this rare disease is also presented.
Keywords: Cataract, keratitis icthyosis deafness (KID), neovascularization, stem cell deficiency
|How to cite this article:|
Balyan M, Malhotra C, Jain AK. Cataract surgery in Keratitis Ichthyosis Deafness (KID) syndrome. Performing a routine surgery in a rare entity - Points to consider. Indian J Ophthalmol Case Rep 2021;1:268-70
|How to cite this URL:|
Balyan M, Malhotra C, Jain AK. Cataract surgery in Keratitis Ichthyosis Deafness (KID) syndrome. Performing a routine surgery in a rare entity - Points to consider. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Apr 11];1:268-70. Available from: https://www.ijoreports.in/text.asp?2021/1/2/268/312344
The earliest case of Keratitis Icthyosis Deafness (KID) syndrome was reported in 1915 by Burns as a congenital keratoderma with ocular and mucosal involvement and the abbreviation 'KID syndrome' was coined by Skinner et al. It is a rare Geno dermatosis that comprises hyperkeratotic skin lesions, non-progressive sensorineural hearing loss, and neovascularizing keratitis. Mutations in GJB2 gene coding for connexin 26, a component of gap junctions in epithelial cells has been reported. Different ocular manifestations of the disease include photophobia, Meibomian gland More Details atrophy, trichiasis, loss of eyebrows, and eyelashes. Corneal involvement is reported in form of vascularizing keratitis, pannus formation, leucoma, and limbal stem cell deficiency (LSCD). Described severity of the ocular surface disease varies profoundly in the published literature.
| Case Report|| |
A 45-year-old female presented with complaints of bilateral diminution of vision since childhood, which gradually progressed over past 4–5 years. The accompanying family members reported a history of dark velvety skin ever since birth and she developed total alopecia by the age of 15 years. The dermatological changes were accompanied by non-progressive hypoacusis since early life with absence of any deaf mutism.
On ocular examination her best-corrected visual acuity (BCVA) was counting fingers for both the eyes, there were absence of eyebrows and eyelashes accompanied by severe meibomian gland dysfunction [Figure 1]a. She was severely photophobic and the Schirmer's test in both the eyes was less than 5 mm/5 min. Both eyes showed the presence of conjunctival congestion, superficial corneal neovascularization along with subepithelial scarring, and grade 4–5 nuclear opalescence [Figure 1]b and [Figure 1]c. Presence of meagrely distributed palisades of Vogt indicated some degree of limbal stem cell deficiency and fluorescein staining under cobalt blue filter showed presence of superficial punctate epitheliopathy.
|Figure 1: (a) Shows near-total loss of brow hairs with a total absence of eyelashes and thickened lid margins. (b) The right eye shows the presence of conjunctival congestion with superficial corneal neovascularization with some vessels reaching up to the center of the cornea. Dense nuclear sclerosis can be appreciated along with a mid-dilating pupil and subepithelial scarring (red arrow). (c) Similarly, the left eye has the presence of superficial corneal neovascularization, and subepithelial scarring (blue arrow). The limbal palisades of Vogt are visualized very indistinctly all around the limbus|
Click here to view
On general examination papillomatous hyperkeratotic skin lesions, accompanied by multiple tiny excrescences giving skin a speculated grainy appearance were seen over the body [Figure 2]a. The skin at the extensor surfaces had rugose or wrinkled appearance [Figure 2]b. The nails were atrophic [Figure 2]c and scalp had presence of total alopecia [Figure 2]d. She was referred for evaluation to the dermatologist and otolaryngologist, following which a diagnosis of KID syndrome was made.
|Figure 2: (a) Showing Papillomatous hyperkeratosis giving a grainy, rugose, and spiculated appearance to the skin of the palms. (b) Thickened, rippled leathery skin at the dorsal aspect of the hands. (c) Keratodermic lesions mainly involving the distal ends of the limbs. The skin shows horny spiculated appearance along with the presence of dystrophic nails. (d) Total alopecia along with hyperkeratotic lesions at the tip of the nose and accentuation of the periorbital sulci is seen. The presence of photophobia can be well appreciated|
Click here to view
For visual rehabilitation, cataract surgery was planned for the right eye. As the superior limbus is richer in limbal stem cells and surgeries involving larger incisions at the limbus may lead to iatrogenic LSCD, the preoperative plan was to perform clear corneal phacoemulsification. However, due to low Intraoperative visibility, the surgical plan was changed to extracapsular cataract extraction (ECCE) with PCIOL implantation. Care was taken to ensure minimal use of wet field cautery to prevent exacerbation of pre-existing LSCD and reduce post-operative inflammation and vascularization. Dispersive viscoelastic was used frequently to coat the corneal surface intraoperatively, to prevent development of any iatrogenic epithelial defect. A three-piece intraocular lens was implanted in the capsular bag. She was carefully watched for development of any non-healing epithelial defect in the early postoperative period and early suture removal was done to prevent suture-induced vascularization. In addition to the routine postoperative regimen of topical antibiotics and steroids, aggressive lubrication of the ocular surface was maintained using sodium hyaluronate 0.1% eye drops4–6 times/day. Subsequently, ECCE was performed for the left eye with an uneventful intraoperative and postoperative course and a BCVA of 20/80 in both the eyes was recorded at 6 months post-surgery. Topical cyclosporine 0.05% twice a day, was advised for bilateral instillation along with lubricants on a long-term basis to optimize the ocular surface. The patient was advised regular follow up at 3 monthly intervals.
| Discussion|| |
The age at which the ocular disease manifests in patients with KID syndrome varies from early postnatal period to 20 years of age, as reported in a large literature review of 61 patients by Caceres-Rios et al. According to them ocular involvement was seen in 95% patients, of which 79% had vascularized keratitis.
Most of the manifestations in KID syndrome are related to abnormal functioning of connexin 26. Connexin 26 regulates hair growth by upregulating E- cadherin in the cells of outer root sheath of human hair follicles. An abnormally functioning connexin 26 thus results in loss of hair and dystrichiasis seen in KID syndrome. Connexin 26 is also considered to be a part of gap junctions in the lacrimal gland and vital for normal secretory functions of the gland. It also has a possible role in epithelial functioning and regeneration. A combination of poor tear secretion, lid abnormalities, dystrichiasis and poor epithelial regeneration leads to a cascade of events resulting in recurrent epithelial erosions, and healing with scarring and neovascularization. Miteva et al. reported a KID syndrome patient with absent lacrimal puncta and absence of corneal involvement possibly indicating role of intact lacrimal film in preventing development of severe ocular surface disease.
Cataract surgery in these patients can be challenging for multiple reasons. Worsening of limbal stem cell deficiency, postoperative inflammation, and non-healing epithelial defects further leading to site threatening complications like corneal scarring, infectious keratitis, and corneal melt, may be the potential complications which should be anticipated. Other surgical procedures like superficial keratectomy, amniotic membrane transplantation, lamellar or penetrating keratoplasty, and allogenic limbal cell transplant have been reported in the literature with mostly disappointing outcomes. These Patients are more susceptible to bacterial and mycotic infections and carries a greater risk of developing squamous cell carcinoma, therefore a long-term follow-up for systemic and ocular manifestations is advisable for these patients.
| Conclusion|| |
Our case report brings out the clinical features and challenges in the management of cataract in a patient with KID syndrome.
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|| |
Burns FS. A case of generalized congenital keratoderma, with unusual involvement of the eyes, ears, and nasal and buccal mucous membranes. J Cutan Dis 1915;33:255-60.
Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Dermatol 1981;117:285-9.
Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, et al
. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002;70:1341-8.
Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis–ichthyosis–deafness (KID) syndrome. Ophthalmology 2005; 112:1-6.
Wiley L, SunderRaj N, Sun TT, Thoft RA. Regional heterogeneity in human corneal and limbal epithelia: An immunohistochemical evaluation. Invest Ophthalmol Vis Sci 1991;32:594-602.
Schwartz GS, Holland EJ. Iatrogenic Limbal Stem Cell Deficiency. Ocular Surface Disease Medical and Surgical Management. Springer; 2002. p. 128-33.
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado r. Keratitis, ichthyosis, and deafness (KID syndrome): Review of the literature and proposal of a new terminology. Pediatr Dermatol 1996;13:105-13.
Van Steensel MA, Van Geel M, Nahuys M, Smitt jhs, Steijlen PM. A novel connexin 26 mutation in a patient diagnosed with keratitis ichthyosis-deafness syndrome. J Invest Dermatol 2002;118:724-7.
Walcott B, Moore LC, Birzgalis A, Claros M, Valiunas V, Ott T. Role of gap junctions in fluid secretion of lacrimal glands. Am J Physiol Cell Physiol 2002;282:C501-7.
Miteva L. Keratitis, ichthyosis, and deafness (KID) syndrome. Pediatr Dermatol 2002;19:513-6.
[Figure 1], [Figure 2]