Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
OBJECTIVE
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the association of hyperkeratotic skin lesions, moderate to profound sensorineural hearing loss and vascularizing keratitis. Mutations in the GJB2 gene coding for connexin 26, a component of gap junctions in epithelial cells, have been observed in several KID patients. Variable ocular manifestations of the disease in 3 patients with molecular genetically confirmed KID syndrome are reported.


METHODS
Retrospective case series.


METHODS
Clinical examination and molecular genetic analysis for mutations in the GJB2 gene were performed in 3 patients with KID syndrome ages 5, 13, and 41 years.


RESULTS
Visual acuity ranged from normal to severe visual loss. The ocular signs included loss of eyebrows and lashes, thickened and keratinized lids, trichiasis, recurrent corneal epithelial defects, superficial and deep corneal stromal vascularization with scarring, keratoconjunctivitis sicca, and, in one patient, presumed limbal insufficiency. Whereas ocular surface integrity could be maintained with artificial tears in one patient, and an epithelial defect healed under conservative treatment in the second patient, multiple surgical procedures including superficial keratectomies, limbal allograft transplantation with systemic immunosuppression, amniotic membrane transplantation, lateral tarsorrhaphies, and lamellar keratoplasty could not preserve useful vision in the third patient.


CONCLUSIONS
KID syndrome may affect the ocular adnexae and surface with variable severity independent of the age of the patient. Lid abnormalities, corneal surface instability, limbal stem cell deficiency with resulting corneal complications, and dry eye are the main ocular manifestations.
Messmer
E M
EM
Department of Ophthalmology, Ludwig-Maximilians-University, Munich, Germany.
Kenyon
K R
KR
Rittinger
O
O
Janecke
A R
AR
Kampik
A
A
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D016510:Corneal Neovascularization / Q000175:diagnosis; D003319:Corneal Stroma / Q000098:blood supply; D003638:Deafness / Q000151:congenital / Q000175:diagnosis* / Q000188:drug therapy; D005128:Eye Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005140:Eyelashes / Q000473:pathology; D005141:Eyelid Diseases / Q000175:diagnosis; D005260:Female; D006201:Hair Diseases / Q000175:diagnosis*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis* / Q000188:drug therapy; D007634:Keratitis / Q000151:congenital / Q000175:diagnosis* / Q000188:drug therapy; D007638:Keratoconjunctivitis Sicca / Q000175:diagnosis; D008297:Male; D009154:Mutation; D009883:Ophthalmic Solutions / Q000627:therapeutic use; D012189:Retrospective Studies; D013577:Syndrome; D014792:Visual Acuity
D017630:Connexins; C000607042:GJB2 protein, human; D009883:Ophthalmic Solutions; D000072259:Connexin 26